Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Sep;30(9):713–727. doi: 10.1136/jmg.30.9.713

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

N Tommerup 1
PMCID: PMC1016528  PMID: 8411066

Full text

PDF
713

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anad F., Burn J., Matthews D., Cross I., Davison B. C., Mueller R., Sands M., Lillington D. M., Eastham E. Alagille syndrome and deletion of 20p. J Med Genet. 1990 Dec;27(12):729–737. doi: 10.1136/jmg.27.12.729. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Andersen L. B., Tommerup N., Koch J. Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis. Cytogenet Cell Genet. 1990;53(4):206–210. doi: 10.1159/000132931. [DOI] [PubMed] [Google Scholar]
  3. Andersson M., Page D. C., Pettay D., Subrt I., Turleau C., de Grouchy J., de la Chapelle A. Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11. Hum Genet. 1988 May;79(1):2–7. doi: 10.1007/BF00291700. [DOI] [PubMed] [Google Scholar]
  4. Arai E., Ikeuchi T., Karasawa S., Tamura A., Yamamoto K., Kida M., Ichimura K., Yuasa Y., Tonomura A. Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2. Am J Med Genet. 1992 Sep 15;44(2):163–167. doi: 10.1002/ajmg.1320440209. [DOI] [PubMed] [Google Scholar]
  5. Augusseau S., Jouk S., Jalbert P., Prieur M. DiGeorge syndrome and 22q11 rearrangements. Hum Genet. 1986 Oct;74(2):206–206. doi: 10.1007/BF00282098. [DOI] [PubMed] [Google Scholar]
  6. Ballabio A., Andria G. Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Hum Mol Genet. 1992 Jul;1(4):221–227. doi: 10.1093/hmg/1.4.221. [DOI] [PubMed] [Google Scholar]
  7. Ballabio A., Carrozzo R., Gil A., Gillard B., Affara N., Ferguson-Smith M. A., Fraser N., Craig I., Rocchi M., Romeo G. Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq. Ann Hum Genet. 1989 Jan;53(Pt 1):9–14. doi: 10.1111/j.1469-1809.1989.tb01117.x. [DOI] [PubMed] [Google Scholar]
  8. Bardoni B., Zuffardi O., Guioli S., Ballabio A., Simi P., Cavalli P., Grimoldi M. G., Fraccaro M., Camerino G. A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics. 1991 Oct;11(2):443–451. doi: 10.1016/0888-7543(91)90153-6. [DOI] [PubMed] [Google Scholar]
  9. Bass E. B., Smith S. W., Jr, Stevenson R. E., Rosse W. F. Further evidence for location of the spherocytosis gene on chromosome 8. Ann Intern Med. 1983 Aug;99(2):192–193. doi: 10.7326/0003-4819-99-2-192. [DOI] [PubMed] [Google Scholar]
  10. Bawle E., Tyrkus M., Lipman S., Bozimowski D. Aarskog syndrome: full male and female expression associated with an X-autosome translocation. Am J Med Genet. 1984 Mar;17(3):595–602. doi: 10.1002/ajmg.1320170307. [DOI] [PubMed] [Google Scholar]
  11. Bernstein R., Dawson B., Kohl R., Jenkins T. X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci. J Med Genet. 1979 Aug;16(4):254–262. doi: 10.1136/jmg.16.4.254. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Bitoun P., Philippe C., Cherif M., Mulcahy M. T., Gilgenkrantz S. Incontinentia pigmenti (type 1) and X;5 translocation. Ann Genet. 1992;35(1):51–54. [PubMed] [Google Scholar]
  13. Bloch M., Hayden M. R. Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet. 1990 Jan;46(1):1–4. [PMC free article] [PubMed] [Google Scholar]
  14. Bocian M., Walker A. P. Lip pits and deletion 1q32----41. Am J Med Genet. 1987 Feb;26(2):437–443. doi: 10.1002/ajmg.1320260223. [DOI] [PubMed] [Google Scholar]
  15. Bodrug S. E., Burghes A. H., Ray P. M., Worton R. G. Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene. Genomics. 1989 Jan;4(1):101–104. doi: 10.1016/0888-7543(89)90321-2. [DOI] [PubMed] [Google Scholar]
  16. Bodrug S. E., Ray P. N., Gonzalez I. L., Schmickel R. D., Sylvester J. E., Worton R. G. Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy. Science. 1987 Sep 25;237(4822):1620–1624. doi: 10.1126/science.3629260. [DOI] [PubMed] [Google Scholar]
  17. Bottani A., Xie Y. G., Binkert F., Schinzel A. A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus. Hum Genet. 1991 Oct;87(6):748–750. doi: 10.1007/BF00201741. [DOI] [PubMed] [Google Scholar]
  18. Boyd Y., Buckle V. J. Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin Genet. 1986 Feb;29(2):108–115. doi: 10.1111/j.1399-0004.1986.tb01232.x. [DOI] [PubMed] [Google Scholar]
  19. Boyd Y., Buckle V., Holt S., Munro E., Hunter D., Craig I. Muscular dystrophy in girls with X;autosome translocations. J Med Genet. 1986 Dec;23(6):484–490. doi: 10.1136/jmg.23.6.484. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Boyd Y., Cockburn D., Holt S., Munro E., Van Ommen G. J., Gillard B., Affara N., Ferguson-Smith M., Craig I. Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy. Cytogenet Cell Genet. 1988;48(1):28–34. doi: 10.1159/000132581. [DOI] [PubMed] [Google Scholar]
  21. Breuning M. H., Dauwerse H. G., Fugazza G., Saris J. J., Spruit L., Wijnen H., Tommerup N., van der Hagen C. B., Imaizumi K., Kuroki Y. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet. 1993 Feb;52(2):249–254. [PMC free article] [PubMed] [Google Scholar]
  22. Bridge J., Sanger W., Mosher G., Buehler B., Nelson R., Welsh M., Newland J., Kafka M. Partial deletion of distal 17q. Am J Med Genet. 1985 Jun;21(2):225–229. doi: 10.1002/ajmg.1320210204. [DOI] [PubMed] [Google Scholar]
  23. Brown K. W., Gardner A., Williams J. C., Mott M. G., McDermott A., Maitland N. J. Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature. Cancer Genet Cytogenet. 1992 Jan;58(1):66–70. doi: 10.1016/0165-4608(92)90136-v. [DOI] [PubMed] [Google Scholar]
  24. Bruening W., Bardeesy N., Silverman B. L., Cohn R. A., Machin G. A., Aronson A. J., Housman D., Pelletier J. Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. Nat Genet. 1992 May;1(2):144–148. doi: 10.1038/ng0592-144. [DOI] [PubMed] [Google Scholar]
  25. Brueton L., Huson S. M., Winter R. M., Williamson R. Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13. Am J Med Genet. 1988 Dec;31(4):799–804. doi: 10.1002/ajmg.1320310412. [DOI] [PubMed] [Google Scholar]
  26. Bunin G. R., Emanuel B. S., Meadows A. T., Buckley J. D., Woods W. G., Hammond G. D. Frequency of 13q abnormalities among 203 patients with retinoblastoma. J Natl Cancer Inst. 1989 Mar 1;81(5):370–374. doi: 10.1093/jnci/81.5.370. [DOI] [PubMed] [Google Scholar]
  27. Burgin A. B., Parodos K., Lane D. J., Pace N. R. The excision of intervening sequences from Salmonella 23S ribosomal RNA. Cell. 1990 Feb 9;60(3):405–414. doi: 10.1016/0092-8674(90)90592-3. [DOI] [PubMed] [Google Scholar]
  28. Butler M. G. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet. 1990 Mar;35(3):319–332. doi: 10.1002/ajmg.1320350306. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Bühler E. M., Bühler U. K., Beutler C., Fessler R. A final word on the tricho-rhino-phalangeal syndromes. Clin Genet. 1987 Apr;31(4):273–275. doi: 10.1111/j.1399-0004.1987.tb02806.x. [DOI] [PubMed] [Google Scholar]
  30. Bühler E. M. Unmasking of heterozygosity by inherited balanced translocations. Implications for prenatal diagnosis and gene mapping. Ann Genet. 1983;26(3):133–137. [PubMed] [Google Scholar]
  31. Call K. M., Glaser T., Ito C. Y., Buckler A. J., Pelletier J., Haber D. A., Rose E. A., Kral A., Yeger H., Lewis W. H. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell. 1990 Feb 9;60(3):509–520. doi: 10.1016/0092-8674(90)90601-a. [DOI] [PubMed] [Google Scholar]
  32. Cannizzaro L. A., Hecht F. Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation. Clin Genet. 1987 Jul;32(1):66–69. doi: 10.1111/j.1399-0004.1987.tb03326.x. [DOI] [PubMed] [Google Scholar]
  33. Carey A. H., Roach S., Williamson R., Dumanski J. P., Nordenskjold M., Collins V. P., Rouleau G., Blin N., Jalbert P., Scambler P. J. Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome. Genomics. 1990 Jul;7(3):299–306. doi: 10.1016/0888-7543(90)90161-m. [DOI] [PubMed] [Google Scholar]
  34. Cassidy S. B., Lai L. W., Erickson R. P., Magnuson L., Thomas E., Gendron R., Herrmann J. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet. 1992 Oct;51(4):701–708. [PMC free article] [PubMed] [Google Scholar]
  35. Chamberlin J., Magenis R. E. Parental origin of de novo chromosome rearrangements. Hum Genet. 1980;53(3):343–347. doi: 10.1007/BF00287054. [DOI] [PubMed] [Google Scholar]
  36. Chandley A. C. On the parental origin of de novo mutation in man. J Med Genet. 1991 Apr;28(4):217–223. doi: 10.1136/jmg.28.4.217. [DOI] [PMC free article] [PubMed] [Google Scholar]
  37. Chelly J., Tümer Z., Tønnesen T., Petterson A., Ishikawa-Brush Y., Tommerup N., Horn N., Monaco A. P. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet. 1993 Jan;3(1):14–19. doi: 10.1038/ng0193-14. [DOI] [PubMed] [Google Scholar]
  38. Chilcote R. R., Le Beau M. M., Dampier C., Pergament E., Verlinsky Y., Mohandas N., Frischer H., Rowley J. D. Association of red cell spherocytosis with deletion of the short arm of chromosome 8. Blood. 1987 Jan;69(1):156–159. [PubMed] [Google Scholar]
  39. Chumakov I., Rigault P., Guillou S., Ougen P., Billaut A., Guasconi G., Gervy P., LeGall I., Soularue P., Grinas L. Continuum of overlapping clones spanning the entire human chromosome 21q. Nature. 1992 Oct 1;359(6394):380–387. doi: 10.1038/359380a0. [DOI] [PubMed] [Google Scholar]
  40. Cohen M. M., Jr Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet. 1989 Oct;34(2):271–288. doi: 10.1002/ajmg.1320340232. [DOI] [PubMed] [Google Scholar]
  41. Collins F. A., Murphy D. L., Reiss A. L., Sims K. B., Lewis J. G., Freund L., Karoum F., Zhu D., Maumenee I. H., Antonarakis S. E. Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes. Am J Med Genet. 1992 Jan 1;42(1):127–134. doi: 10.1002/ajmg.1320420126. [DOI] [PubMed] [Google Scholar]
  42. Collins F. S. Positional cloning: let's not call it reverse anymore. Nat Genet. 1992 Apr;1(1):3–6. doi: 10.1038/ng0492-3. [DOI] [PubMed] [Google Scholar]
  43. Cowell J. K., Hungerford J., Rutland P., Jay M. Genetic and cytogenetic analysis of patients showing reduced esterase-D levels and mental retardation from a survey of 500 individuals with retinoblastoma. Ophthalmic Paediatr Genet. 1989 Jun;10(2):117–127. doi: 10.3109/13816818909088352. [DOI] [PubMed] [Google Scholar]
  44. Cremers F. P., van de Pol D. J., Diergaarde P. J., Wieringa B., Nussbaum R. L., Schwartz M., Ropers H. H. Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics. 1989 Jan;4(1):41–46. doi: 10.1016/0888-7543(89)90312-1. [DOI] [PubMed] [Google Scholar]
  45. Cremers F. P., van de Pol D. J., van Kerkhoff L. P., Wieringa B., Ropers H. H. Cloning of a gene that is rearranged in patients with choroideraemia. Nature. 1990 Oct 18;347(6294):674–677. doi: 10.1038/347674a0. [DOI] [PubMed] [Google Scholar]
  46. Cremers F. P., van de Pol T. J., Wieringa B., Hofker M. H., Pearson P. L., Pfeiffer R. A., Mikkelsen M., Tabor A., Ropers H. H. Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet. 1988 Oct;43(4):452–461. [PMC free article] [PubMed] [Google Scholar]
  47. Crolla J. A., Gilgenkrantz S., de Grouchy J., Kajii T., Bobrow M. Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromere-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases. Hum Genet. 1989 Feb;81(3):269–272. doi: 10.1007/BF00279002. [DOI] [PubMed] [Google Scholar]
  48. Cross I., Delhanty J., Chapman P., Bowles L. V., Griffin D., Wolstenholme J., Bradburn M., Brown J., Wood C., Gunn A. An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations. J Med Genet. 1992 Mar;29(3):175–179. doi: 10.1136/jmg.29.3.175. [DOI] [PMC free article] [PubMed] [Google Scholar]
  49. Davis L. M., Stallard R., Thomas G. H., Couillin P., Junien C., Nowak N. J., Shows T. B. Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci. Science. 1988 Aug 12;241(4867):840–842. doi: 10.1126/science.2841760. [DOI] [PubMed] [Google Scholar]
  50. Diaz-Castaños L. R., Rivera H., Gonzalez-Montes R. M., Diaz M. Translocation (Y;19)(q12;q13) and azoospermia. Ann Genet. 1991;34(1):27–29. [PubMed] [Google Scholar]
  51. Disteche C. M., Casanova M., Saal H., Friedman C., Sybert V., Graham J., Thuline H., Page D. C., Fellous M. Small deletions of the short arm of the Y chromosome in 46,XY females. Proc Natl Acad Sci U S A. 1986 Oct;83(20):7841–7844. doi: 10.1073/pnas.83.20.7841. [DOI] [PMC free article] [PubMed] [Google Scholar]
  52. Dobyns W. B., Elias E. R., Newlin A. C., Pagon R. A., Ledbetter D. H. Causal heterogeneity in isolated lissencephaly. Neurology. 1992 Jul;42(7):1375–1388. doi: 10.1212/wnl.42.7.1375. [DOI] [PubMed] [Google Scholar]
  53. Driscoll D. A., Budarf M. L., Emanuel B. S. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet. 1992 May;50(5):924–933. [PMC free article] [PubMed] [Google Scholar]
  54. Driscoll D. A., Spinner N. B., Budarf M. L., McDonald-McGinn D. M., Zackai E. H., Goldberg R. B., Shprintzen R. J., Saal H. M., Zonana J., Jones M. C. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet. 1992 Sep 15;44(2):261–268. doi: 10.1002/ajmg.1320440237. [DOI] [PubMed] [Google Scholar]
  55. Ebensperger C., Jäger R. J., Lattermann U., Dagna Bricarelli F., Keutel J., Lindsten J., Rehder H., Müller U., Wolf U. No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia. Ann Genet. 1991;34(3-4):233–238. [PubMed] [Google Scholar]
  56. Ellison K. A., Fill C. P., Terwilliger J., DeGennaro L. J., Martin-Gallardo A., Anvret M., Percy A. K., Ott J., Zoghbi H. Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet. 1992 Feb;50(2):278–287. [PMC free article] [PubMed] [Google Scholar]
  57. Emanuel B. S. Molecular cytogenetics: toward dissection of the contiguous gene syndromes. Am J Hum Genet. 1988 Nov;43(5):575–578. [PMC free article] [PubMed] [Google Scholar]
  58. Fannemel M., Riise R., Lofterød B., Tommerup N. High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome. Clin Genet. 1993 Feb;43(2):111–112. doi: 10.1111/j.1399-0004.1993.tb04461.x. [DOI] [PubMed] [Google Scholar]
  59. Fantes J. A., Bickmore W. A., Fletcher J. M., Ballesta F., Hanson I. M., van Heyningen V. Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. Am J Hum Genet. 1992 Dec;51(6):1286–1294. [PMC free article] [PubMed] [Google Scholar]
  60. Ferguson-Smith M. A., Cooke A., Affara N. A., Boyd E., Tolmie J. L. Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genet. 1990 Jan;84(2):198–202. doi: 10.1007/BF00208942. [DOI] [PubMed] [Google Scholar]
  61. Flannery D. B. Pigmentary dysplasias, hypomelanosis of Ito, and genetic mosaicism. Am J Med Genet. 1990 Jan;35(1):18–21. doi: 10.1002/ajmg.1320350105. [DOI] [PubMed] [Google Scholar]
  62. Foote S., Vollrath D., Hilton A., Page D. C. The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science. 1992 Oct 2;258(5079):60–66. doi: 10.1126/science.1359640. [DOI] [PubMed] [Google Scholar]
  63. Fraumeni J. F., Jr, Glass A. G. Wilms' tumor and congenital aniridia. JAMA. 1968 Oct 21;206(4):825–828. [PubMed] [Google Scholar]
  64. Froster-Iskenius U. G., Hayden M. R., Wang H. S., Kalousek D. K., Horsman D., Pfeiffer R. A., Schottky A., Schwinger E. A family with Huntington disease and reciprocal translocation 4;5. Am J Hum Genet. 1986 May;38(5):759–767. [PMC free article] [PubMed] [Google Scholar]
  65. Fryns J. P., Kleczkowska A., Decock P., Van den Berghe H. Angelman's syndrome and 15q11-13 deletions. J Med Genet. 1989 Aug;26(8):538–538. doi: 10.1136/jmg.26.8.538. [DOI] [PMC free article] [PubMed] [Google Scholar]
  66. Fryns J. P., Van den Berghe H. 8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I. Hum Genet. 1986 Oct;74(2):188–189. doi: 10.1007/BF00282091. [DOI] [PubMed] [Google Scholar]
  67. Fujita H., Meng J., Kawamura M., Tozuka N., Ishii F., Tanaka N. Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome. Am J Med Genet. 1992 Nov 1;44(4):434–436. doi: 10.1002/ajmg.1320440409. [DOI] [PubMed] [Google Scholar]
  68. Funderburk S. J., Crandall B. F. Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion. Am J Hum Genet. 1974 Nov;26(6):715–722. [PMC free article] [PubMed] [Google Scholar]
  69. Gessler M., Poustka A., Cavenee W., Neve R. L., Orkin S. H., Bruns G. A. Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature. 1990 Feb 22;343(6260):774–778. doi: 10.1038/343774a0. [DOI] [PubMed] [Google Scholar]
  70. Gessler M., Simola K. O., Bruns G. A. Cloning of breakpoints of a chromosome translocation identifies the AN2 locus. Science. 1989 Jun 30;244(4912):1575–1578. doi: 10.1126/science.2544995. [DOI] [PubMed] [Google Scholar]
  71. Giacalone J. P., Francke U. Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. Am J Hum Genet. 1992 Apr;50(4):725–741. [PMC free article] [PubMed] [Google Scholar]
  72. Giannotti A., Alessandri A., Reale A., Digilio M. C., Valorani M. G. Delezione parziale del braccio lungo del cromosoma 17. Presentazione di un caso clinico. Minerva Pediatr. 1992 Jan-Feb;44(1-2):51–54. [PubMed] [Google Scholar]
  73. Gilgenkrantz S., Tridon P., Pinel-Briquel N., Beurey J., Weber M. Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11? Ann Genet. 1985;28(2):90–92. [PubMed] [Google Scholar]
  74. Goldblatt J., Smart R. D. Tricho-rhino-phalangeal syndrome without exostoses, wih an interstitial deletion of 8q23. Clin Genet. 1986 May;29(5):434–438. doi: 10.1111/j.1399-0004.1986.tb00517.x. [DOI] [PubMed] [Google Scholar]
  75. Gorlin R. J., Cervenka J., Bloom B. A., Langer L. O., Jr No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome. Am J Med Genet. 1982 Nov;13(3):345–347. doi: 10.1002/ajmg.1320130322. [DOI] [PubMed] [Google Scholar]
  76. Gorski J. L., Burright E. N., Reyner E. L., Goodfellow P. N., Burgess D. L. Isolation of DNA markers from a region between incontinentia pigmenti 1 (IP1) X-chromosomal translocation breakpoints by a comparative PCR analysis of a radiation hybrid subclone mapping panel. Genomics. 1992 Nov;14(3):649–656. doi: 10.1016/s0888-7543(05)80164-8. [DOI] [PubMed] [Google Scholar]
  77. Greenberg F., Elder F. F., Haffner P., Northrup H., Ledbetter D. H. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Hum Genet. 1988 Nov;43(5):605–611. [PMC free article] [PubMed] [Google Scholar]
  78. Gurrieri F., Trask B. J., van den Engh G., Krauss C. M., Schinzel A., Pettenati M. J., Schindler D., Dietz-Band J., Vergnaud G., Scherer S. W. Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet. 1993 Mar;3(3):247–251. doi: 10.1038/ng0393-247. [DOI] [PubMed] [Google Scholar]
  79. Haan E. A., Hull Y. J., White S., Cockington R., Charlton P., Callen D. F. Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q. Am J Med Genet. 1989 Apr;32(4):490–494. doi: 10.1002/ajmg.1320320412. [DOI] [PubMed] [Google Scholar]
  80. Haas O. A., Zoubek A., Grümayer E. R., Gadner H. Constitutional interstitial deletion of 11p11 and pericentric inversion of chromosome 9 in a patient with Wiedemann-Beckwith syndrome and hepatoblastoma. Cancer Genet Cytogenet. 1986 Oct;23(2):95–104. doi: 10.1016/0165-4608(86)90409-7. [DOI] [PubMed] [Google Scholar]
  81. Haber D. A., Buckler A. J., Glaser T., Call K. M., Pelletier J., Sohn R. L., Douglass E. C., Housman D. E. An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor. Cell. 1990 Jun 29;61(7):1257–1269. doi: 10.1016/0092-8674(90)90690-g. [DOI] [PubMed] [Google Scholar]
  82. Hamabe J., Fukushima Y., Harada N., Abe K., Matsuo N., Nagai T., Yoshioka A., Tonoki H., Tsukino R., Niikawa N. Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients. Am J Med Genet. 1991 Oct 1;41(1):54–63. doi: 10.1002/ajmg.1320410116. [DOI] [PubMed] [Google Scholar]
  83. Hamabe J., Kuroki Y., Imaizumi K., Sugimoto T., Fukushima Y., Yamaguchi A., Izumikawa Y., Niikawa N. DNA deletion and its parental origin in Angelman syndrome patients. Am J Med Genet. 1991 Oct 1;41(1):64–68. doi: 10.1002/ajmg.1320410117. [DOI] [PubMed] [Google Scholar]
  84. Hamers A., Jongbloet P., Peeters G., Fryns J. P., Geraedts J. Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion. Eur J Pediatr. 1990 Jun;149(9):618–620. doi: 10.1007/BF02034746. [DOI] [PubMed] [Google Scholar]
  85. Happle R. Tentative assignment of hypomelanosis of Ito to 9q33----qter. Hum Genet. 1987 Jan;75(1):98–99. doi: 10.1007/BF00273854. [DOI] [PubMed] [Google Scholar]
  86. Harris A., Lankester S., Haan E., Beres J., Hulten M., Szollar J., Souttier L., Bobrow M. The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization. Clin Genet. 1988 Jul;34(1):1–6. doi: 10.1111/j.1399-0004.1988.tb02607.x. [DOI] [PubMed] [Google Scholar]
  87. Hasegawa T., Hasegawa Y., Asamura S., Nagai T., Tsuchiya Y., Ninomiya M., Fukushima Y. EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations. Clin Genet. 1991 Sep;40(3):202–206. doi: 10.1111/j.1399-0004.1991.tb03077.x. [DOI] [PubMed] [Google Scholar]
  88. Hatziioannou A. G., Krauss C. M., Lewis M. B., Halazonetis T. D. Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36. Am J Med Genet. 1991 Aug 1;40(2):201–205. doi: 10.1002/ajmg.1320400216. [DOI] [PubMed] [Google Scholar]
  89. Hecht B. K., Hecht F., Münke M. Forebrain cleavage gene causing holoprosencephaly: deletion mapping to chromosome band 2p21. Am J Med Genet. 1991 Jul 1;40(1):130–130. doi: 10.1002/ajmg.1320400131. [DOI] [PubMed] [Google Scholar]
  90. Henry I., Bonaiti-Pellié C., Chehensse V., Beldjord C., Schwartz C., Utermann G., Junien C. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature. 1991 Jun 20;351(6328):665–667. doi: 10.1038/351665a0. [DOI] [PubMed] [Google Scholar]
  91. Herrera L., Kakati S., Gibas L., Pietrzak E., Sandberg A. A. Gardner syndrome in a man with an interstitial deletion of 5q. Am J Med Genet. 1986 Nov;25(3):473–476. doi: 10.1002/ajmg.1320250309. [DOI] [PubMed] [Google Scholar]
  92. Higgins M. J., Hansen M. F., Cavenee W. K., Lalande M. Molecular detection of chromosomal translocations that disrupt the putative retinoblastoma susceptibility locus. Mol Cell Biol. 1989 Jan;9(1):1–5. doi: 10.1128/mcb.9.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  93. Ho M. F., Monaco A. P., Blonden L. A., van Ommen G. J., Affara N. A., Ferguson-Smith M. A., Lehrach H. Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21. Am J Hum Genet. 1992 Feb;50(2):317–330. [PMC free article] [PubMed] [Google Scholar]
  94. Hodgson S. V., Heckmatt J. Z., Hughes E., Crolla J. A., Dubowitz V., Bobrow M. A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. Am J Med Genet. 1986 Mar;23(3):837–847. doi: 10.1002/ajmg.1320230311. [DOI] [PubMed] [Google Scholar]
  95. Hodgson S. V., Neville B., Jones R. W., Fear C., Bobrow M. Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum Genet. 1985;71(3):231–234. doi: 10.1007/BF00284581. [DOI] [PubMed] [Google Scholar]
  96. Holmquist G. P. Chromosome bands, their chromatin flavors, and their functional features. Am J Hum Genet. 1992 Jul;51(1):17–37. [PMC free article] [PubMed] [Google Scholar]
  97. Hoo J. J., Haslam R. H., van Orman C. Tentative assignment of piebald trait gene to chromosome band 4q12. Hum Genet. 1986 Jul;73(3):230–231. doi: 10.1007/BF00401233. [DOI] [PubMed] [Google Scholar]
  98. Hotta Y., Fujiki K., Ishida N., Kato K., Nakajima A., Takamatsu H. High resolution G-banding analysis in aniridia. Ophthalmic Paediatr Genet. 1987 Nov;8(3):145–150. doi: 10.3109/13816818709031460. [DOI] [PubMed] [Google Scholar]
  99. Houston C. S., Opitz J. M., Spranger J. W., Macpherson R. I., Reed M. H., Gilbert E. F., Herrmann J., Schinzel A. The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet. 1983 May;15(1):3–28. doi: 10.1002/ajmg.1320150103. [DOI] [PubMed] [Google Scholar]
  100. Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991. Cytogenet Cell Genet. 1991;58(3-4):986–2156. doi: 10.1159/000133716. [DOI] [PubMed] [Google Scholar]
  101. Imaizumi K., Kuroki Y. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3). Am J Med Genet. 1991 Mar 15;38(4):636–639. doi: 10.1002/ajmg.1320380430. [DOI] [PubMed] [Google Scholar]
  102. Imaizumi K., Takada F., Kuroki Y., Naritomi K., Hamabe J., Niikawa N. Cytogenetic and molecular study of Angelman syndrome. Am J Med Genet. 1990 Mar;35(3):314–318. doi: 10.1002/ajmg.1320350305. [DOI] [PubMed] [Google Scholar]
  103. Ishikiriyama S., Tonoki H., Shibuya Y., Chin S., Harada N., Abe K., Niikawa N. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). Am J Med Genet. 1989 Aug;33(4):505–507. doi: 10.1002/ajmg.1320330419. [DOI] [PubMed] [Google Scholar]
  104. Jacobs P. A., Hunt P. A., Mayer M., Bart R. D. Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet. 1981 Jul;33(4):513–518. [PMC free article] [PubMed] [Google Scholar]
  105. Jordan T., Hanson I., Zaletayev D., Hodgson S., Prosser J., Seawright A., Hastie N., van Heyningen V. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet. 1992 Aug;1(5):328–332. doi: 10.1038/ng0892-328. [DOI] [PubMed] [Google Scholar]
  106. Journel H., Melki J., Turleau C., Munnich A., de Grouchy J. Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X. Am J Med Genet. 1990 Jan;35(1):142–147. doi: 10.1002/ajmg.1320350130. [DOI] [PubMed] [Google Scholar]
  107. Kajii T., Tsukahara M., Fukushima Y., Hata A., Matsuo K., Kuroki Y. Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma. Ann Genet. 1985;28(4):219–223. [PubMed] [Google Scholar]
  108. Kapur S., Higgins J. V., Delp K., Rogers B. Menkes syndrome in a girl with X-autosome translocation. Am J Med Genet. 1987 Feb;26(2):503–510. doi: 10.1002/ajmg.1320260230. [DOI] [PubMed] [Google Scholar]
  109. Kayes L. M., Riccardi V. M., Burke W., Bennett R. L., Stephens K. Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. J Med Genet. 1992 Oct;29(10):686–690. doi: 10.1136/jmg.29.10.686. [DOI] [PMC free article] [PubMed] [Google Scholar]
  110. Kean V. M., Macleod H. L., Thompson M. W., Ray P. N., Verellen-Dumoulin C., Worton R. G. Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy. J Med Genet. 1986 Dec;23(6):491–493. doi: 10.1136/jmg.23.6.491. [DOI] [PMC free article] [PubMed] [Google Scholar]
  111. Kelly D., Goldberg R., Wilson D., Lindsay E., Carey A., Goodship J., Burn J., Cross I., Shprintzen R. J., Scambler P. J. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet. 1993 Feb 1;45(3):308–312. doi: 10.1002/ajmg.1320450306. [DOI] [PubMed] [Google Scholar]
  112. Kimberling W. J., Fulbeck T., Dixon L., Lubs H. A. Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation. Am J Hum Genet. 1975 Sep;27(5):586–594. [PMC free article] [PubMed] [Google Scholar]
  113. Kiss P., Osztovics M. Association of 13q deletion and Hirschsprung's disease. J Med Genet. 1989 Dec;26(12):793–794. doi: 10.1136/jmg.26.12.793. [DOI] [PMC free article] [PubMed] [Google Scholar]
  114. Kitatani M., Chiyo H., Ozaki M., Shike S., Miwa S. Localization of the spherocytosis gene to chromosome segment 8p11.22----8p21. Hum Genet. 1988 Jan;78(1):94–95. doi: 10.1007/BF00291244. [DOI] [PubMed] [Google Scholar]
  115. Kobayashi T., Narahara K., Yokoyama Y., Ueyama S., Mohri O., Fujii T., Fujimoto M., Ohtsuki S., Tsuji K., Seino Y. Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5. Am J Med Genet. 1991 Dec 15;41(4):460–463. doi: 10.1002/ajmg.1320410416. [DOI] [PubMed] [Google Scholar]
  116. Korenberg J. R., Rykowski M. C. Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. Cell. 1988 May 6;53(3):391–400. doi: 10.1016/0092-8674(88)90159-6. [DOI] [PubMed] [Google Scholar]
  117. Kousseff B. G., Agatucci A. Aniridia-Wilms tumor association. J Pediatr. 1981 Apr;98(4):676–678. doi: 10.1016/s0022-3476(81)80817-7. [DOI] [PubMed] [Google Scholar]
  118. Krüger G., Götz J., Kvist U., Dunker H., Erfurth F., Pelz L., Zech L. Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13). Am J Med Genet. 1989 Mar;32(3):411–416. doi: 10.1002/ajmg.1320320329. [DOI] [PubMed] [Google Scholar]
  119. Kuwano A., Ledbetter S. A., Dobyns W. B., Emanuel B. S., Ledbetter D. H. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet. 1991 Oct;49(4):707–714. [PMC free article] [PubMed] [Google Scholar]
  120. LELE K. P., PENROSE L. S., STALLARD H. B. CHROMOSOME DELETION IN A CASE OF RETINOBLASTOMA. Ann Hum Genet. 1963 Nov;27:171–174. doi: 10.1111/j.1469-1809.1963.tb00209.x. [DOI] [PubMed] [Google Scholar]
  121. Lacassie Y., Thurmon T. F., Tracy M. C., Pelias M. Z. Piebald trait in a retarded child with interstitial deletion of chromosome 4. Am J Hum Genet. 1977 Nov;29(6):641–642. [PMC free article] [PubMed] [Google Scholar]
  122. Lacombe D., Saura R., Taine L., Battin J. Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3. Am J Med Genet. 1992 Sep 1;44(1):126–128. doi: 10.1002/ajmg.1320440134. [DOI] [PubMed] [Google Scholar]
  123. Le Guern E., Couillin P., Oberlé I., Ravise N., Boue J. More precise localization of the gene for Hunter syndrome. Genomics. 1990 Jul;7(3):358–362. doi: 10.1016/0888-7543(90)90169-u. [DOI] [PubMed] [Google Scholar]
  124. Ledbetter D. H., Rich D. C., O'Connell P., Leppert M., Carey J. C. Precise localization of NF1 to 17q11.2 by balanced translocation. Am J Hum Genet. 1989 Jan;44(1):20–24. [PMC free article] [PubMed] [Google Scholar]
  125. Ledbetter S. A., Kuwano A., Dobyns W. B., Ledbetter D. H. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet. 1992 Jan;50(1):182–189. [PMC free article] [PubMed] [Google Scholar]
  126. Limon J., Filipiuk J., Nedoszytko B., Mrózek K., Castrén M., Larramendy M., Roszkiewicz J. X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female. Hum Genet. 1991 Jul;87(3):338–340. doi: 10.1007/BF00200916. [DOI] [PubMed] [Google Scholar]
  127. Lindenbaum R. H., Clarke G., Patel C., Moncrieff M., Hughes J. T. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet. 1979 Oct;16(5):389–392. doi: 10.1136/jmg.16.5.389. [DOI] [PMC free article] [PubMed] [Google Scholar]
  128. Lindgren V., Bryke C. R., Ozcelik T., Yang-Feng T. L., Francke U. Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis. Am J Hum Genet. 1992 May;50(5):988–997. [PMC free article] [PubMed] [Google Scholar]
  129. Luke S., Bennett H. S., Pitter J. H., Verma R. S. A new case of monosomy for 17q25----qter due to a maternal translocation [t(3;17)(p12;q24)]. Ann Genet. 1992;35(1):48–50. [PubMed] [Google Scholar]
  130. Lupski J. R., Wise C. A., Kuwano A., Pentao L., Parke J. T., Glaze D. G., Ledbetter D. H., Greenberg F., Patel P. I. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Apr;1(1):29–33. doi: 10.1038/ng0492-29. [DOI] [PubMed] [Google Scholar]
  131. Lurie I. W., Ilyina H. G., Podleschuk L. V., Gorelik L. B., Zaletajev D. V. Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis. Am J Med Genet. 1990 Feb;35(2):286–288. doi: 10.1002/ajmg.1320350229. [DOI] [PubMed] [Google Scholar]
  132. Lux S. E., Tse W. T., Menninger J. C., John K. M., Harris P., Shalev O., Chilcote R. R., Marchesi S. L., Watkins P. C., Bennett V. Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. Nature. 1990 Jun 21;345(6277):736–739. doi: 10.1038/345736a0. [DOI] [PubMed] [Google Scholar]
  133. Lyons L. A., Martha A., Mintz-Hittner H. A., Saunders G. F., Ferrell R. E. Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13. Genomics. 1992 Aug;13(4):925–930. doi: 10.1016/0888-7543(92)90002-a. [DOI] [PubMed] [Google Scholar]
  134. MILLER R. W., FRAUMENI J. F., Jr, MANNING M. D. ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS. N Engl J Med. 1964 Apr 30;270:922–927. doi: 10.1056/NEJM196404302701802. [DOI] [PubMed] [Google Scholar]
  135. Ma K., Sharkey A., Kirsch S., Vogt P., Keil R., Hargreave T. B., McBeath S., Chandley A. C. Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet. 1992 Apr;1(1):29–33. doi: 10.1093/hmg/1.1.29. [DOI] [PubMed] [Google Scholar]
  136. MacDermot K. D., Hultén M. Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case. Hum Genet. 1990 May;84(6):577–579. doi: 10.1007/BF00210814. [DOI] [PubMed] [Google Scholar]
  137. Maraia R., Saal H. M., Wangsa D. A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis. Clin Genet. 1991 Jun;39(6):401–408. doi: 10.1111/j.1399-0004.1991.tb03050.x. [DOI] [PubMed] [Google Scholar]
  138. Maton P. N., Gardner J. D., Jensen R. T. Cushing's syndrome in patients with the Zollinger-Ellison syndrome. N Engl J Med. 1986 Jul 3;315(1):1–5. doi: 10.1056/NEJM198607033150101. [DOI] [PubMed] [Google Scholar]
  139. Matsumoto T., Kondoh T., Yoshimoto M., Fujieda K., Matsuura N., Matsuda I., Miike T., Yano K., Okuno A., Aoki Y. Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients. Am J Med Genet. 1988 Nov;31(3):603–616. doi: 10.1002/ajmg.1320310315. [DOI] [PubMed] [Google Scholar]
  140. Mattei M. G., Mattei J. F., Ayme S., Giraud F. X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet. 1982;61(4):295–309. doi: 10.1007/BF00276593. [DOI] [PubMed] [Google Scholar]
  141. McCabe E. R., Towbin J. A., van den Engh G., Trask B. J. Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints. Am J Hum Genet. 1992 Dec;51(6):1277–1285. [PMC free article] [PubMed] [Google Scholar]
  142. McKusick V. A., Amberger J. S. The morbid anatomy of the human genome: chromosomal location of mutations causing disease. J Med Genet. 1993 Jan;30(1):1–26. doi: 10.1136/jmg.30.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  143. Meitinger T., Boyd Y., Anand R., Craig I. W. Mapping of Xp21 translocation breakpoints in and around the DMD gene by pulsed field gel electrophoresis. Genomics. 1988 Nov;3(4):315–322. doi: 10.1016/0888-7543(88)90122-x. [DOI] [PubMed] [Google Scholar]
  144. Mercer J. F., Livingston J., Hall B., Paynter J. A., Begy C., Chandrasekharappa S., Lockhart P., Grimes A., Bhave M., Siemieniak D. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet. 1993 Jan;3(1):20–25. doi: 10.1038/ng0193-20. [DOI] [PubMed] [Google Scholar]
  145. Merry D. E., Jänne P. A., Landers J. E., Lewis R. A., Nussbaum R. L. Isolation of a candidate gene for choroideremia. Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2135–2139. doi: 10.1073/pnas.89.6.2135. [DOI] [PMC free article] [PubMed] [Google Scholar]
  146. Monaco A. P., Neve R. L., Colletti-Feener C., Bertelson C. J., Kurnit D. M., Kunkel L. M. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 1986 Oct 16;323(6089):646–650. doi: 10.1038/323646a0. [DOI] [PubMed] [Google Scholar]
  147. Monaco G., Ciccimarra F., Pignata C., Garofalo S. T cell immunodeficiency in a patient with 10p deletion syndrome. J Pediatr. 1989 Aug;115(2):330–330. doi: 10.1016/s0022-3476(89)80097-6. [DOI] [PubMed] [Google Scholar]
  148. Moore J. W., Hyman S., Antonarakis S. E., Mules E. H., Thomas G. H. Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. Hum Genet. 1986 Apr;72(4):297–302. doi: 10.1007/BF00290952. [DOI] [PubMed] [Google Scholar]
  149. Moss C., Burn J. Genetic counselling in hypomelanosis of Ito: case report and review. Clin Genet. 1988 Aug;34(2):109–115. doi: 10.1111/j.1399-0004.1988.tb02845.x. [DOI] [PubMed] [Google Scholar]
  150. Mossman J., Blunt S., Stephens R., Jones E. E., Pembrey M. Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. Arch Dis Child. 1983 Nov;58(11):911–915. doi: 10.1136/adc.58.11.911. [DOI] [PMC free article] [PubMed] [Google Scholar]
  151. Motegi T., Ohuchi M., Ohtaki C., Fujiwara K., Enomoto S., Hasegawa T., Kishi K., Hayakawa H. A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21. Hum Genet. 1985;71(2):160–162. doi: 10.1007/BF00283374. [DOI] [PubMed] [Google Scholar]
  152. Mueller O. T., Hartsfield J. K., Jr, Gallardo L. A., Essig Y. P., Miller K. L., Papenhausen P. R., Tedesco T. A. Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. Am J Hum Genet. 1991 Oct;49(4):804–810. [PMC free article] [PubMed] [Google Scholar]
  153. Munier F., Pescia G., Jotterand-Bellomo M., Balmer A., Gailloud C., Thonney F. Constitutional karyotype in retinoblastoma. Case report and review of literature. Ophthalmic Paediatr Genet. 1989 Jun;10(2):129–150. doi: 10.3109/13816818909088353. [DOI] [PubMed] [Google Scholar]
  154. Münke M. Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly. Am J Med Genet. 1989 Oct;34(2):237–245. doi: 10.1002/ajmg.1320340222. [DOI] [PubMed] [Google Scholar]
  155. Nakagome Y., Ise T., Sakurai M., Nakajo T., Okamoto E., Takano T., Nakahori Y., Tsuchida Y., Nagahara N., Takada Y. High-resolution studies in patients with aniridia-Wilms tumor association, Wilms tumor or related congenital abnormalities. Hum Genet. 1984;67(3):245–248. doi: 10.1007/BF00291349. [DOI] [PubMed] [Google Scholar]
  156. Nakagome Y., Nagahara N. High-resolution studies in patients with aniridia-Wilms tumor association. Hum Genet. 1985;70(3):289–289. doi: 10.1007/BF00273462. [DOI] [PubMed] [Google Scholar]
  157. Naritomi K., Hirayama K. Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I. Hum Genet. 1989 May;82(2):199–201. doi: 10.1007/BF00284059. [DOI] [PubMed] [Google Scholar]
  158. Naritomi K., Hyakuna N., Suzuki Y., Orii T., Hirayama K. Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7. Hum Genet. 1988 Oct;80(2):201–202. doi: 10.1007/BF00702873. [DOI] [PubMed] [Google Scholar]
  159. Naritomi K., Izumikawa Y., Nagataki S., Fukushima Y., Wakui K., Niikawa N., Hirayama K. Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? Am J Med Genet. 1992 Jul 15;43(5):839–843. doi: 10.1002/ajmg.1320430517. [DOI] [PubMed] [Google Scholar]
  160. Naritomi K., Izumikawa Y., Ohshiro S., Yoshida K., Shimozawa N., Suzuki Y., Orii T., Hirayama K. Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7. Hum Genet. 1989 Dec;84(1):79–80. doi: 10.1007/BF00210677. [DOI] [PubMed] [Google Scholar]
  161. Nicholls R. D., Knoll J. H., Butler M. G., Karam S., Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989 Nov 16;342(6247):281–285. doi: 10.1038/342281a0. [DOI] [PMC free article] [PubMed] [Google Scholar]
  162. Niikawa N., Fukushima Y., Taniguchi N., Iizuka S., Kajii T. Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity. Hum Genet. 1982;60(4):373–375. doi: 10.1007/BF00569223. [DOI] [PubMed] [Google Scholar]
  163. Norman A. M., Read A. P., Clayton-Smith J., Andrews T., Donnai D. Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5). Am J Med Genet. 1992 Feb 15;42(4):638–641. doi: 10.1002/ajmg.1320420441. [DOI] [PubMed] [Google Scholar]
  164. Ogata T., Matsuo N., Shimizu N. A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male. Am J Med Genet. 1990 Feb;35(2):241–244. doi: 10.1002/ajmg.1320350219. [DOI] [PubMed] [Google Scholar]
  165. Ogle R. F., Dalzell P., Turner G., Wass D., Yip M. Y. Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). J Med Genet. 1991 Dec;28(12):881–883. doi: 10.1136/jmg.28.12.881. [DOI] [PMC free article] [PubMed] [Google Scholar]
  166. Ohba N., Yamashita T. Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation. Br J Ophthalmol. 1986 Jan;70(1):64–71. doi: 10.1136/bjo.70.1.64. [DOI] [PMC free article] [PubMed] [Google Scholar]
  167. Pelletier J., Bruening W., Kashtan C. E., Mauer S. M., Manivel J. C., Striegel J. E., Houghton D. C., Junien C., Habib R., Fouser L. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell. 1991 Oct 18;67(2):437–447. doi: 10.1016/0092-8674(91)90194-4. [DOI] [PubMed] [Google Scholar]
  168. Pelletier J., Bruening W., Li F. P., Haber D. A., Glaser T., Housman D. E. WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature. 1991 Oct 3;353(6343):431–434. doi: 10.1038/353431a0. [DOI] [PubMed] [Google Scholar]
  169. Pembrey M., Fennell S. J., van den Berghe J., Fitchett M., Summers D., Butler L., Clarke C., Griffiths M., Thompson E., Super M. The association of Angelman's syndrome with deletions within 15q11-13. J Med Genet. 1989 Feb;26(2):73–77. doi: 10.1136/jmg.26.2.73. [DOI] [PMC free article] [PubMed] [Google Scholar]
  170. Pendergrass T. W. Congenital anomalies in children with Wilms' tumor: a new survey. Cancer. 1976 Jan;37(1):403–408. doi: 10.1002/1097-0142(197601)37:1<403::aid-cncr2820370152>3.0.co;2-h. [DOI] [PubMed] [Google Scholar]
  171. Pentao L., Lewis R. A., Ledbetter D. H., Patel P. I., Lupski J. R. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet. 1992 Apr;50(4):690–699. [PMC free article] [PubMed] [Google Scholar]
  172. Peterson M. B., Frantzen M., Antonarakis S. E., Warren A. C., Van Broeckhoven C., Chakravarti A., Cox T. K., Lund C., Olsen B., Poulsen H. Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome. Am J Hum Genet. 1992 Sep;51(3):516–525. [PMC free article] [PubMed] [Google Scholar]
  173. Pettenati M. J., Rao P. N., Weaver R. G., Jr, Thomas I. T., McMahan M. R. Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family. Am J Med Genet. 1993 Mar 1;45(5):577–580. doi: 10.1002/ajmg.1320450511. [DOI] [PubMed] [Google Scholar]
  174. Pettenati M. J., Weaver R. G., Burton B. K. Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. Am J Med Genet. 1989 Oct;34(2):230–232. doi: 10.1002/ajmg.1320340220. [DOI] [PubMed] [Google Scholar]
  175. Pettigrew A. L., Greenberg F., Caskey C. T., Ledbetter D. H. Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13. Hum Genet. 1991 Aug;87(4):452–456. doi: 10.1007/BF00197167. [DOI] [PubMed] [Google Scholar]
  176. Plougastel B., Couillin P., Blanquet V., Le Guern E., Bakker E., Turleau C., De Grouchy J., Créau-Goldberg N. Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients. Genomics. 1992 Oct;14(2):523–525. doi: 10.1016/s0888-7543(05)80259-9. [DOI] [PubMed] [Google Scholar]
  177. Porteous D. J., Bickmore W., Christie S., Boyd P. A., Cranston G., Fletcher J. M., Gosden J. R., Rout D., Seawright A., Simola K. O. HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13. Proc Natl Acad Sci U S A. 1987 Aug;84(15):5355–5359. doi: 10.1073/pnas.84.15.5355. [DOI] [PMC free article] [PubMed] [Google Scholar]
  178. Pueschel S. M., Padre-Mendoza T. Chromosome 11 and Beckwith-Wiedemann syndrome. J Pediatr. 1984 Mar;104(3):484–485. doi: 10.1016/s0022-3476(84)81127-0. [DOI] [PubMed] [Google Scholar]
  179. Puissant H., Azoulay M., Serre J. L., Piet L. L., Junien C. Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient. Hum Genet. 1988 Jul;79(3):280–282. doi: 10.1007/BF00366252. [DOI] [PubMed] [Google Scholar]
  180. Qumsiyeh M. B. EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3. Clin Genet. 1992 Aug;42(2):101–101. doi: 10.1111/j.1399-0004.1992.tb03149.x. [DOI] [PubMed] [Google Scholar]
  181. Ray P. N., Belfall B., Duff C., Logan C., Kean V., Thompson M. W., Sylvester J. E., Gorski J. L., Schmickel R. D., Worton R. G. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature. 1985 Dec 19;318(6047):672–675. doi: 10.1038/318672a0. [DOI] [PubMed] [Google Scholar]
  182. Reardon W., Roberts S., Phelps P. D., Thomas N. S., Beck L., Issac R., Hughes H. E. Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness. Am J Med Genet. 1992 Nov 1;44(4):513–517. doi: 10.1002/ajmg.1320440427. [DOI] [PubMed] [Google Scholar]
  183. Riccardi V. M., Hittner H. M., Strong L. C., Fernbach D. J., Lebo R., Ferrell R. E. Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes. J Pediatr. 1982 Apr;100(4):574–577. doi: 10.1016/s0022-3476(82)80755-5. [DOI] [PubMed] [Google Scholar]
  184. Rivera H., Sanchez-Corona J., Burgos-Fuentes V. R., Melendez-Ruiz M. J. Deletion of 7q22 and ectrodactyly. Genet Couns. 1991;2(1):27–31. [PubMed] [Google Scholar]
  185. Robinson D. O., Boyd Y., Cockburn D., Collinson M. N., Craig I., Jacobs P. A. The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27 beta methylation analysis. Genet Res. 1990 Oct-Dec;56(2-3):135–140. doi: 10.1017/s0016672300035217. [DOI] [PubMed] [Google Scholar]
  186. Robinson W. P., Bottani A., Xie Y. G., Balakrishman J., Binkert F., Mächler M., Prader A., Schinzel A. Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet. 1991 Dec;49(6):1219–1234. [PMC free article] [PubMed] [Google Scholar]
  187. Ropers H. H., Zuffardi O., Bianchi E., Tiepolo L. Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. Hum Genet. 1982;61(4):364–368. doi: 10.1007/BF00276602. [DOI] [PubMed] [Google Scholar]
  188. Royer-Pokora B., Kunkel L. M., Monaco A. P., Goff S. C., Newburger P. E., Baehner R. L., Cole F. S., Curnutte J. T., Orkin S. H. Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature. 1986 Jul 3;322(6074):32–38. doi: 10.1038/322032a0. [DOI] [PubMed] [Google Scholar]
  189. Scambler P. J., Carey A. H., Wyse R. K., Roach S., Dumanski J. P., Nordenskjold M., Williamson R. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics. 1991 May;10(1):201–206. doi: 10.1016/0888-7543(91)90501-5. [DOI] [PubMed] [Google Scholar]
  190. Scambler P. J., Kelly D., Lindsay E., Williamson R., Goldberg R., Shprintzen R., Wilson D. I., Goodship J. A., Cross I. E., Burn J. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet. 1992 May 9;339(8802):1138–1139. doi: 10.1016/0140-6736(92)90734-k. [DOI] [PubMed] [Google Scholar]
  191. Schmickel R. D. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr. 1986 Aug;109(2):231–241. doi: 10.1016/s0022-3476(86)80377-8. [DOI] [PubMed] [Google Scholar]
  192. Schmidt M., Certoma A., Du Sart D., Kalitsis P., Leversha M., Fowler K., Sheffield L., Jack I., Danks D. M. Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome. Hum Genet. 1990 Mar;84(4):347–352. doi: 10.1007/BF00196232. [DOI] [PubMed] [Google Scholar]
  193. Schmidt M., Du Sart D. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. Am J Med Genet. 1992 Jan 15;42(2):161–169. doi: 10.1002/ajmg.1320420205. [DOI] [PubMed] [Google Scholar]
  194. Schmutz S. M. Deletion of chromosome 11(p11p13) in a patient with Beckwith-Wiedemann syndrome. Clin Genet. 1986 Sep;30(3):154–156. doi: 10.1111/j.1399-0004.1986.tb00588.x. [DOI] [PubMed] [Google Scholar]
  195. Schwartz M., Rosenberg T., Niebuhr E., Lundsteen C., Sardemann H., Andersen O., Yang H. M., Lamm L. U. Choroideremia: further evidence for assignment of the locus to Xq13-Xq21. Hum Genet. 1986 Dec;74(4):449–452. doi: 10.1007/BF00280505. [DOI] [PubMed] [Google Scholar]
  196. Sefiani A., Abel L., Heuertz S., Sinnett D., Lavergne L., Labuda D., Hors-Cayla M. C. The gene for incontinentia pigmenti is assigned to Xq28. Genomics. 1989 Apr;4(3):427–429. doi: 10.1016/0888-7543(89)90350-9. [DOI] [PubMed] [Google Scholar]
  197. Sefiani A., Heuertz S., Turleau C., Thibaud D., de Grouchy J., Hors-Cayla M. C. Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations. Ann Genet. 1989;32(3):149–151. [PubMed] [Google Scholar]
  198. Shabtai F., Sandowski U., Nissimov R., Klar D., Halbrecht I. Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1). Clin Genet. 1985 Jun;27(6):600–605. doi: 10.1111/j.1399-0004.1985.tb02045.x. [DOI] [PubMed] [Google Scholar]
  199. Shannon R. S., Mann J. R., Harper E., Harnden D. G., Morten J. E., Herbert A. Wilms's tumour and aniridia: clinical and cytogenetic features. Arch Dis Child. 1982 Sep;57(9):685–690. doi: 10.1136/adc.57.9.685. [DOI] [PMC free article] [PubMed] [Google Scholar]
  200. Sharland M., Patton M. A., Hill L. Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. Am J Med Genet. 1991 Jun 15;39(4):413–414. doi: 10.1002/ajmg.1320390410. [DOI] [PubMed] [Google Scholar]
  201. Simola K. O., Knuutila S., Kaitila I., Pirkola A., Pohja P. Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor. Hum Genet. 1983;63(2):158–161. doi: 10.1007/BF00291536. [DOI] [PubMed] [Google Scholar]
  202. Sinclair A. H., Berta P., Palmer M. S., Hawkins J. R., Griffiths B. L., Smith M. J., Foster J. W., Frischauf A. M., Lovell-Badge R., Goodfellow P. N. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. 1990 Jul 19;346(6281):240–244. doi: 10.1038/346240a0. [DOI] [PubMed] [Google Scholar]
  203. Siu V. M., Gonder J. R., Jung J. H., Sergovich F. R., Flintoff W. F. Choroideremia associated with an X-autosomal translocation. Hum Genet. 1990 Apr;84(5):459–464. doi: 10.1007/BF00195820. [DOI] [PMC free article] [PubMed] [Google Scholar]
  204. Slee J. J., Smart R. D., Viljoen D. L. Deletion of chromosome 13 in Moebius syndrome. J Med Genet. 1991 Jun;28(6):413–414. doi: 10.1136/jmg.28.6.413. [DOI] [PMC free article] [PubMed] [Google Scholar]
  205. Smith A. C., McGavran L., Robinson J., Waldstein G., Macfarlane J., Zonona J., Reiss J., Lahr M., Allen L., Magenis E. Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet. 1986 Jul;24(3):393–414. doi: 10.1002/ajmg.1320240303. [DOI] [PubMed] [Google Scholar]
  206. Smith J. C., Webb T., Pembrey M. E., Nichols M., Malcolm S. Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome. Hum Genet. 1992 Feb;88(4):376–378. doi: 10.1007/BF00215668. [DOI] [PubMed] [Google Scholar]
  207. Speleman F., Craen M., Leroy J. De novo terminal deletion 7p22.1--pter in a child without craniosynostosis. J Med Genet. 1989 Aug;26(8):528–532. doi: 10.1136/jmg.26.8.528. [DOI] [PMC free article] [PubMed] [Google Scholar]
  208. Stambolian D., Sellinger B., Derrington D., Sargent R., Emanuel B. S. Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma. Am J Med Genet. 1992 Apr 1;42(6):771–776. doi: 10.1002/ajmg.1320420604. [DOI] [PubMed] [Google Scholar]
  209. Stratton R. F., Dobyns W. B., Airhart S. D., Ledbetter D. H. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet. 1984;67(2):193–200. doi: 10.1007/BF00273000. [DOI] [PubMed] [Google Scholar]
  210. Tabor A., Andersen O., Lundsteen C., Niebuhr E., Sardemann H. Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother. Hum Genet. 1983;64(2):196–199. doi: 10.1007/BF00327127. [DOI] [PubMed] [Google Scholar]
  211. Taylor A. I. Dq-, Dr and retinoblastoma. Humangenetik. 1970;10(3):209–217. doi: 10.1007/BF00295782. [DOI] [PubMed] [Google Scholar]
  212. Teebi A. S., Murthy D. S., Ismail E. A., Redha A. A. Alagille syndrome with de novo del(20) (p11.2). Am J Med Genet. 1992 Jan 1;42(1):35–38. doi: 10.1002/ajmg.1320420109. [DOI] [PubMed] [Google Scholar]
  213. Therman E., Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet. 1990 Jul;85(2):175–183. doi: 10.1007/BF00193192. [DOI] [PubMed] [Google Scholar]
  214. Thomas N. S., Ray P. N., Worton R. G., Harper P. S. Molecular deletion analysis in Duchenne muscular dystrophy. J Med Genet. 1986 Dec;23(6):509–515. doi: 10.1136/jmg.23.6.509. [DOI] [PMC free article] [PubMed] [Google Scholar]
  215. Tommerup N., Lothe R. Constitutional ring chromosomes and tumour suppressor genes. J Med Genet. 1992 Dec;29(12):879–882. doi: 10.1136/jmg.29.12.879. [DOI] [PMC free article] [PubMed] [Google Scholar]
  216. Tommerup N., Nielsen F. A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome. Am J Med Genet. 1983 Nov;16(3):313–321. doi: 10.1002/ajmg.1320160304. [DOI] [PubMed] [Google Scholar]
  217. Tommerup N., Schempp W., Meinecke P., Pedersen S., Bolund L., Brandt C., Goodpasture C., Guldberg P., Held K. R., Reinwein H. Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nat Genet. 1993 Jun;4(2):170–174. doi: 10.1038/ng0693-170. [DOI] [PubMed] [Google Scholar]
  218. Tommerup N., Tümer Z., Tønnesen T., Horn N. A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders. J Med Genet. 1993 Apr;30(4):314–315. doi: 10.1136/jmg.30.4.314. [DOI] [PMC free article] [PubMed] [Google Scholar]
  219. Tommerup N., van der Hagen C. B., Heiberg A. Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). Am J Med Genet. 1992 Sep 15;44(2):237–241. doi: 10.1002/ajmg.1320440223. [DOI] [PubMed] [Google Scholar]
  220. Ton C. C., Hirvonen H., Miwa H., Weil M. M., Monaghan P., Jordan T., van Heyningen V., Hastie N. D., Meijers-Heijboer H., Drechsler M. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell. 1991 Dec 20;67(6):1059–1074. doi: 10.1016/0092-8674(91)90284-6. [DOI] [PubMed] [Google Scholar]
  221. Tsukamoto K., Tohma T., Ohta T., Yamakawa K., Fukushima Y., Nakamura Y., Niikawa N. Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I. Hum Mol Genet. 1992 Aug;1(5):315–317. doi: 10.1093/hmg/1.5.315. [DOI] [PubMed] [Google Scholar]
  222. Turleau C., Chavin-Colin F., de Grouchy J., Maroteaux P., Rivera H. Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23. Hum Genet. 1982;62(3):183–187. doi: 10.1007/BF00333515. [DOI] [PubMed] [Google Scholar]
  223. Turleau C., Niaudet P., Cabanis M. O., Plessis G., Cau D., de Grouchy J. X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female. Clin Genet. 1989 Jun;35(6):462–466. doi: 10.1111/j.1399-0004.1989.tb02973.x. [DOI] [PubMed] [Google Scholar]
  224. Turleau C., de Grouchy J., Nihoul-Fékété C., Dufier J. L., Chavin-Colin F., Junien C. Del11p13/nephroblastoma without aniridia. Hum Genet. 1984;67(4):455–456. doi: 10.1007/BF00291410. [DOI] [PubMed] [Google Scholar]
  225. Turleau C., de Grouchy J., Tournade M. F., Gagnadoux M. F., Junien C. Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature. Clin Genet. 1984 Oct;26(4):356–362. doi: 10.1111/j.1399-0004.1984.tb01071.x. [DOI] [PubMed] [Google Scholar]
  226. Tümer Z., Tommerup N., Tønnesen T., Kreuder J., Craig I. W., Horn N. Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2. Hum Genet. 1992 Mar;88(6):668–672. doi: 10.1007/BF02265295. [DOI] [PubMed] [Google Scholar]
  227. Verga V., Hall B. K., Wang S. R., Johnson S., Higgins J. V., Glover T. W. Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1. Am J Hum Genet. 1991 Jun;48(6):1133–1138. [PMC free article] [PubMed] [Google Scholar]
  228. Viskochil D., Buchberg A. M., Xu G., Cawthon R. M., Stevens J., Wolff R. K., Culver M., Carey J. C., Copeland N. G., Jenkins N. A. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell. 1990 Jul 13;62(1):187–192. doi: 10.1016/0092-8674(90)90252-a. [DOI] [PubMed] [Google Scholar]
  229. Vortkamp A., Gessler M., Grzeschik K. H. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature. 1991 Aug 8;352(6335):539–540. doi: 10.1038/352539a0. [DOI] [PubMed] [Google Scholar]
  230. Vortkamp A., Thias U., Gessler M., Rosenkranz W., Kroisel P. M., Tommerup N., Krüger G., Götz J., Pelz L., Grzeschik K. H. A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p. Genomics. 1991 Nov;11(3):737–743. doi: 10.1016/0888-7543(91)90082-p. [DOI] [PubMed] [Google Scholar]
  231. Vulpe C., Levinson B., Whitney S., Packman S., Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet. 1993 Jan;3(1):7–13. doi: 10.1038/ng0193-7. [DOI] [PubMed] [Google Scholar]
  232. Wagner K., Kroisel P. M., Rosenkranz W. Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes. Genomics. 1990 Nov;8(3):487–491. doi: 10.1016/0888-7543(90)90035-s. [DOI] [PubMed] [Google Scholar]
  233. Walker A. P., Muscatelli F., Monaco A. P. Isolation of the human Xp21 glycerol kinase gene by positional cloning. Hum Mol Genet. 1993 Feb;2(2):107–114. doi: 10.1093/hmg/2.2.107. [DOI] [PubMed] [Google Scholar]
  234. Webb T., Clayton-Smith J., Cheng X. J., Knoll J. H., Lalande M., Pembrey M. E., Malcolm S. Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13. J Med Genet. 1992 Dec;29(12):921–924. doi: 10.1136/jmg.29.12.921. [DOI] [PMC free article] [PubMed] [Google Scholar]
  235. Weissenbach J., Gyapay G., Dib C., Vignal A., Morissette J., Millasseau P., Vaysseix G., Lathrop M. A second-generation linkage map of the human genome. Nature. 1992 Oct 29;359(6398):794–801. doi: 10.1038/359794a0. [DOI] [PubMed] [Google Scholar]
  236. Whitby C., de Cates C. R., Roberton N. R. Infants weighing 1.8-2.5 kg: should they be cared for in neonatal units or postnatal wards? Lancet. 1982 Feb 6;1(8267):322–325. doi: 10.1016/s0140-6736(82)91578-1. [DOI] [PubMed] [Google Scholar]
  237. Williams C. A., Zori R. T., Stone J. W., Gray B. A., Cantu E. S., Ostrer H. Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am J Med Genet. 1990 Mar;35(3):350–353. doi: 10.1002/ajmg.1320350308. [DOI] [PubMed] [Google Scholar]
  238. Williamson R. A., Donlan M. A., Dolan C. R., Thuline H. C., Harrison M. T., Hall J. G. Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring. Am J Med Genet. 1981;9(2):105–111. doi: 10.1002/ajmg.1320090204. [DOI] [PubMed] [Google Scholar]
  239. Wilson D. I., Cross I. E., Goodship J. A., Brown J., Scambler P. J., Bain H. H., Taylor J. F., Walsh K., Bankier A., Burn J. A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet. 1992 Nov;51(5):957–963. [PMC free article] [PubMed] [Google Scholar]
  240. Wilson M. G., Melnyk J., Towner J. W. Retinoblastoma and deletion D (14) syndrome. J Med Genet. 1969 Sep;6(3):322–327. doi: 10.1136/jmg.6.3.322. [DOI] [PMC free article] [PubMed] [Google Scholar]
  241. Winsor E. J., Welch J. P. Prader-Willi syndrome associated with inversion of chromosome 15. Clin Genet. 1983 Dec;24(6):456–461. doi: 10.1111/j.1399-0004.1983.tb00104.x. [DOI] [PubMed] [Google Scholar]
  242. Wyandt H. E., Grierson H. L., Sanger W. G., Skare J. C., Milunsky A., Purtilo D. T. Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease. Am J Med Genet. 1989 Jul;33(3):426–430. doi: 10.1002/ajmg.1320330331. [DOI] [PubMed] [Google Scholar]
  243. Yamamoto Y., Nishimoto H., Ikemoto S. Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait. Am J Med Genet. 1989 Apr;32(4):520–523. doi: 10.1002/ajmg.1320320419. [DOI] [PubMed] [Google Scholar]
  244. Yamamoto Y., Oguro N., Miyao M., Yanagisawa M. Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13. Am J Med Genet. 1989 Jan;32(1):133–135. doi: 10.1002/ajmg.1320320128. [DOI] [PubMed] [Google Scholar]
  245. Yang H. M., Lund T., Niebuhr E., Nørby S., Schwartz M., Shen L. Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome. Clin Genet. 1990 Aug;38(2):94–104. doi: 10.1111/j.1399-0004.1990.tb03555.x. [DOI] [PubMed] [Google Scholar]
  246. Young I. D., Zuccollo J. M., Maltby E. L., Broderick N. J. Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. J Med Genet. 1992 Apr;29(4):251–252. doi: 10.1136/jmg.29.4.251. [DOI] [PMC free article] [PubMed] [Google Scholar]
  247. Yunis J. J., Ramsay N. K. Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1. J Pediatr. 1980 Jun;96(6):1027–1030. doi: 10.1016/s0022-3476(80)80630-5. [DOI] [PubMed] [Google Scholar]
  248. Ziter F. A., Wiser W. C., Robinson A. Three-generation pedigree of a Möbius syndrome variant with chromosome translocation. Arch Neurol. 1977 Jul;34(7):437–442. doi: 10.1001/archneur.1977.00500190071011. [DOI] [PubMed] [Google Scholar]
  249. Zoghbi H. Y., Ledbetter D. H., Schultz R., Percy A. K., Glaze D. G. A de novo X;3 translocation in Rett syndrome. Am J Med Genet. 1990 Jan;35(1):148–151. doi: 10.1002/ajmg.1320350131. [DOI] [PubMed] [Google Scholar]
  250. Zonana J., Roberts S. H., Thomas N. S., Harper P. S. Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation. J Med Genet. 1988 Jun;25(6):383–386. doi: 10.1136/jmg.25.6.383. [DOI] [PMC free article] [PubMed] [Google Scholar]
  251. Zuffardi O., Fraccaro M. Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus. Hum Genet. 1982;62(3):280–281. doi: 10.1007/BF00333537. [DOI] [PubMed] [Google Scholar]
  252. de Die-Smulders C. E., Engelen J. J., Donk J. M., Fryns J. P. Further evidence for the location of the BPES gene at 3q2. J Med Genet. 1991 Oct;28(10):725–725. doi: 10.1136/jmg.28.10.725. [DOI] [PMC free article] [PubMed] [Google Scholar]
  253. de Grouchy J., Turleau C., Doussau de Bazignan M., Maroteaux P., Thibaud D. Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region. Ann Genet. 1985;28(2):86–89. [PubMed] [Google Scholar]
  254. de Saint-Basile G., Bohler M. C., Fischer A., Cartron J., Dufier J. L., Griscelli C., Orkin S. H. Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype. Hum Genet. 1988 Sep;80(1):85–89. doi: 10.1007/BF00451463. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES