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. 1988 Oct;43(4):355–363.

Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

J G Hall 1
PMCID: PMC1715487  PMID: 3052049

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Selected References

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

  1. Allanson J. E. Germinal mosaicism in Apert syndrome. Clin Genet. 1986 May;29(5):429–433. doi: 10.1111/j.1399-0004.1986.tb00516.x. [DOI] [PubMed] [Google Scholar]
  2. Bowen P. Achondroplasia in two sisters with normal parents. Birth Defects Orig Artic Ser. 1974;10(12):31–36. [PubMed] [Google Scholar]
  3. Bradley T. B., Wohl R. C., Petz L. D., Perkins H. A., Reynolds R. D. Possible gonadal mosaicism in a family with hemoglobin Köln. Johns Hopkins Med J. 1980 Jun;146(6):236–240. [PubMed] [Google Scholar]
  4. Byers P. H., Tsipouras P., Bonadio J. F., Starman B. J., Schwartz R. C. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet. 1988 Feb;42(2):237–248. [PMC free article] [PubMed] [Google Scholar]
  5. 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]
  6. Connor J. M., Stephenson J. B., Hadley M. D. Non-penetrance in tuberous sclerosis. Lancet. 1986 Nov 29;2(8518):1275–1275. doi: 10.1016/s0140-6736(86)92697-8. [DOI] [PubMed] [Google Scholar]
  7. Crane J. P., Cheung S. W. An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue. Prenat Diagn. 1988 Feb;8(2):119–129. doi: 10.1002/pd.1970080206. [DOI] [PubMed] [Google Scholar]
  8. David T. J. Dominant ectrodactyly and possible germinal mosaicism. J Med Genet. 1972 Sep;9(3):316–320. doi: 10.1136/jmg.9.3.316. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Donnai D., McKeown C., Andrews T., Read A. P. Diploid/triploid mixoploidy and hypomelanosis of Ito. Lancet. 1986 Jun 21;1(8495):1443–1444. doi: 10.1016/s0140-6736(86)91588-6. [DOI] [PubMed] [Google Scholar]
  10. Donnenfeld A. E., Conard K. A., Roberts N. S., Borns P. F., Zackai E. H. Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. Am J Med Genet. 1987 May;27(1):159–173. doi: 10.1002/ajmg.1320270117. [DOI] [PubMed] [Google Scholar]
  11. Edwards J. H. The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy. J Med Genet. 1986 Dec;23(6):521–530. doi: 10.1136/jmg.23.6.521. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Fialkow P. J., Singer J. W., Raskind W. H., Adamson J. W., Jacobson R. J., Bernstein I. D., Dow L. W., Najfeld V., Veith R. Clonal development, stem-cell differentiation, and clinical remissions in acute nonlymphocytic leukemia. N Engl J Med. 1987 Aug 20;317(8):468–473. doi: 10.1056/NEJM198708203170802. [DOI] [PubMed] [Google Scholar]
  13. Fryns J. P., Kleczkowska A., Verresen H., van den Berghe H. Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents. Clin Genet. 1983 Sep;24(3):156–158. doi: 10.1111/j.1399-0004.1983.tb02232.x. [DOI] [PubMed] [Google Scholar]
  14. Gardner R. J., Yun K., Craw S. M. Familial ectopic ossification. J Med Genet. 1988 Feb;25(2):113–117. doi: 10.1136/jmg.25.2.113. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Gartler S. M., Francke U. Half chromatid mutations: transmission in humans? Am J Hum Genet. 1975 Mar;27(2):218–223. [PMC free article] [PubMed] [Google Scholar]
  16. Goodship J., Malcolm S., Lau Y. L., Pembrey M. E., Levinsky R. J. Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency. Lancet. 1988 Apr 2;1(8588):729–732. doi: 10.1016/s0140-6736(88)91537-1. [DOI] [PubMed] [Google Scholar]
  17. Hall J. G., Byers P. H. Genetics of tuberous sclerosis. Lancet. 1987 Mar 28;1(8535):751–751. doi: 10.1016/s0140-6736(87)90396-5. [DOI] [PubMed] [Google Scholar]
  18. Hall J. G., Dorst J. P., Rotta J., McKusick V. A. Gonadal mosaicism in pseudoachondroplasia. Am J Med Genet. 1987 Sep;28(1):143–151. doi: 10.1002/ajmg.1320280121. [DOI] [PubMed] [Google Scholar]
  19. Hall J. G. Pseudoachondroplasia. Birth Defects Orig Artic Ser. 1975;11(6):187–202. [PubMed] [Google Scholar]
  20. Happle R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet. 1986 Apr;29(4):321–324. doi: 10.1111/j.1399-0004.1986.tb01261.x. [DOI] [PubMed] [Google Scholar]
  21. Hecht F., Hecht B. K. The half chromatid mutation model and bidirectional mutation in incontinentia pigmenti. Clin Genet. 1983 Sep;24(3):177–179. doi: 10.1111/j.1399-0004.1983.tb02235.x. [DOI] [PubMed] [Google Scholar]
  22. Hunter A. G., Clifford B., Cox D. M. The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin Genet. 1985 Jul;28(1):47–53. doi: 10.1111/j.1399-0004.1985.tb01217.x. [DOI] [PubMed] [Google Scholar]
  23. Jenkins M. E., Eisen J., Sequin F. Congenital asymmetry and diploid-triploid mosaicism. Am J Dis Child. 1971 Jul;122(1):80–84. doi: 10.1001/archpedi.1971.02110010116024. [DOI] [PubMed] [Google Scholar]
  24. Kalousek D. K., Dill F. J. Chromosomal mosaicism confined to the placenta in human conceptions. Science. 1983 Aug 12;221(4611):665–667. doi: 10.1126/science.6867735. [DOI] [PubMed] [Google Scholar]
  25. Kalousek D. K., Dill F. J., Pantzar T., McGillivray B. C., Yong S. L., Wilson R. D. Confined chorionic mosaicism in prenatal diagnosis. Hum Genet. 1987 Oct;77(2):163–167. doi: 10.1007/BF00272385. [DOI] [PubMed] [Google Scholar]
  26. Kimmel C. B., Warga R. M. Cell lineage and developmental potential of cells in the zebrafish embryo. Trends Genet. 1988 Mar;4(3):68–74. doi: 10.1016/0168-9525(88)90043-1. [DOI] [PubMed] [Google Scholar]
  27. Krajewska-Walasek M., Winkielman J., Gorlin R. J. Melnick-Needles syndrome in males. Am J Med Genet. 1987 May;27(1):153–158. doi: 10.1002/ajmg.1320270116. [DOI] [PubMed] [Google Scholar]
  28. LYON M. F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961 Apr 22;190:372–373. doi: 10.1038/190372a0. [DOI] [PubMed] [Google Scholar]
  29. Le Beau M. M., Rowley J. D. Chromosomal abnormalities in leukemia and lymphoma: clinical and biological significance. Adv Hum Genet. 1986;15:1–54. doi: 10.1007/978-1-4615-8356-1_1. [DOI] [PubMed] [Google Scholar]
  30. Lenz W. Letter: Half chromatid mutations may explain incontinentia pigmenti in males. Am J Hum Genet. 1975 Sep;27(5):690–691. [PMC free article] [PubMed] [Google Scholar]
  31. Lilford R. J., Linton G., Irving H. C., Mason M. K. Transabdominal chorion villus biopsy: 100 consecutive cases. Lancet. 1987 Jun 20;1(8547):1415–1417. doi: 10.1016/s0140-6736(87)90602-7. [DOI] [PubMed] [Google Scholar]
  32. Luckett W. P. Origin and differentiation of the yolk sac and extraembryonic mesoderm in presomite human and rhesus monkey embryos. Am J Anat. 1978 May;152(1):59–97. doi: 10.1002/aja.1001520106. [DOI] [PubMed] [Google Scholar]
  33. Migeon B. R. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium. Biochem Genet. 1970 Jun;4(3):377–383. doi: 10.1007/BF00485754. [DOI] [PubMed] [Google Scholar]
  34. Mintz B., Gearhart J. D., Guymont A. O. Phytohemagglutinin-mediated blastomere aggregation and development of allophenic mice. Dev Biol. 1973 Mar;31(1):195–199. doi: 10.1016/0012-1606(73)90331-x. [DOI] [PubMed] [Google Scholar]
  35. Murphree A. L., Benedict W. F. Retinoblastoma: clues to human oncogenesis. Science. 1984 Mar 9;223(4640):1028–1033. doi: 10.1126/science.6320372. [DOI] [PubMed] [Google Scholar]
  36. Nielsen K. G., Poulsen H., Mikkelsen M., Steuber E. Multiple recurrence of trisomy 21 Down syndrome. Hum Genet. 1988 Jan;78(1):103–105. doi: 10.1007/BF00291249. [DOI] [PubMed] [Google Scholar]
  37. Niss R., Passarge E. Trisomy 8 restricted to cultured fibroblasts. J Med Genet. 1976 Jun;13(3):229–234. doi: 10.1136/jmg.13.3.229. [DOI] [PMC free article] [PubMed] [Google Scholar]
  38. Opitz J. M. "Unstable premutation" in achondroplasia: penetrance vs phenotrance. Am J Med Genet. 1984 Oct;19(2):251–254. doi: 10.1002/ajmg.1320190207. [DOI] [PubMed] [Google Scholar]
  39. Pagon R. A., Hall J. G., Davenport S. L., Aase J., Norwood T. H., Hoehn H. W. Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes. Am J Hum Genet. 1979 Jan;31(1):54–61. [PMC free article] [PubMed] [Google Scholar]
  40. Peltomäki P., Knuutila S., Ritvanen A., Kaitila I., de la Chapelle A. Pallister-Killian syndrome: cytogenetic and molecular studies. Clin Genet. 1987 Jun;31(6):399–405. doi: 10.1111/j.1399-0004.1987.tb02832.x. [DOI] [PubMed] [Google Scholar]
  41. REED T. E., FALLS H. F. A pedigree of aniridia with a discussion of germinal mosaicism in man. Am J Hum Genet. 1955 Mar;7(1):28–38. [PMC free article] [PubMed] [Google Scholar]
  42. Rasmussen S. A., Frias J. L. Mild expression of the Pfeiffer syndrome. Clin Genet. 1988 Jan;33(1):5–10. doi: 10.1111/j.1399-0004.1988.tb04258.x. [DOI] [PubMed] [Google Scholar]
  43. Reiser C. A., Pauli R. M., Hall J. G. Achondroplasia: unexpected familial recurrence. Am J Med Genet. 1984 Oct;19(2):245–250. doi: 10.1002/ajmg.1320190206. [DOI] [PubMed] [Google Scholar]
  44. Riccardi V. M., Lewis R. A. Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants. Am J Hum Genet. 1988 Feb;42(2):284–289. [PMC free article] [PubMed] [Google Scholar]
  45. Rollnick B. R. Germinal mosaicism in Crouzon syndrome. Clin Genet. 1988 Mar;33(3):145–150. doi: 10.1111/j.1399-0004.1988.tb03429.x. [DOI] [PubMed] [Google Scholar]
  46. SHUN-SHIN M. Congenital web formation. J Bone Joint Surg Br. 1954 May;36-B(2):268–271. doi: 10.1302/0301-620X.36B2.268. [DOI] [PubMed] [Google Scholar]
  47. Scrable H. J., Witte D. P., Lampkin B. C., Cavenee W. K. Chromosomal localization of the human rhabdomyosarcoma locus by mitotic recombination mapping. Nature. 1987 Oct 15;329(6140):645–647. doi: 10.1038/329645a0. [DOI] [PubMed] [Google Scholar]
  48. Searle A. G. Evidence from mutable genes concerning the origin of the germ line. Basic Life Sci. 1978;12:209–224. doi: 10.1007/978-1-4684-3390-6_16. [DOI] [PubMed] [Google Scholar]
  49. Soriano P., Jaenisch R. Retroviruses as probes for mammalian development: allocation of cells to the somatic and germ cell lineages. Cell. 1986 Jul 4;46(1):19–29. doi: 10.1016/0092-8674(86)90856-1. [DOI] [PubMed] [Google Scholar]
  50. Spence J. E., Perciaccante R. G., Greig G. M., Willard H. F., Ledbetter D. H., Hejtmancik J. F., Pollack M. S., O'Brien W. E., Beaudet A. L. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet. 1988 Feb;42(2):217–226. [PMC free article] [PubMed] [Google Scholar]
  51. Strauss M., Lübbe L., Geissler E. HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency. Hum Genet. 1981;57(2):185–188. doi: 10.1007/BF00282019. [DOI] [PubMed] [Google Scholar]
  52. Swift M., Cohen J., Pinkham R. A maximum-likelihood method for estimating the disease predisposition of heterozygotes. Am J Hum Genet. 1974 May;26(3):304–317. [PMC free article] [PubMed] [Google Scholar]
  53. Turleau C., Taillard F., Doussau de Bazignan M., Delépine N., Desbois J. C., de Grouchy J. Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1. Hum Genet. 1986 Oct;74(2):185–187. doi: 10.1007/BF00282090. [DOI] [PubMed] [Google Scholar]
  54. Warburton D. Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes. Am J Hum Genet. 1988 Feb;42(2):215–216. [PMC free article] [PubMed] [Google Scholar]
  55. West J. D. Clonal growth versus cell mingling. Basic Life Sci. 1978;12:435–444. doi: 10.1007/978-1-4684-3390-6_29. [DOI] [PubMed] [Google Scholar]
  56. Wexler N. S., Young A. B., Tanzi R. E., Travers H., Starosta-Rubinstein S., Penney J. B., Snodgrass S. R., Shoulson I., Gomez F., Ramos Arroyo M. A. Homozygotes for Huntington's disease. Nature. 1987 Mar 12;326(6109):194–197. doi: 10.1038/326194a0. [DOI] [PubMed] [Google Scholar]
  57. Wilkins R. J. Genomic imprinting and carcinogenesis. Lancet. 1988 Feb 13;1(8581):329–331. doi: 10.1016/s0140-6736(88)91121-x. [DOI] [PubMed] [Google Scholar]
  58. Wood S., McGillivray B. C. Germinal mosaicism in Duchenne muscular dystrophy. Hum Genet. 1988 Mar;78(3):282–284. doi: 10.1007/BF00291677. [DOI] [PubMed] [Google Scholar]
  59. den Dunnen J. T., Bakker E., Breteler E. G., Pearson P. L., van Ommen G. J. Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature. 1987 Oct 15;329(6140):640–642. doi: 10.1038/329640a0. [DOI] [PubMed] [Google Scholar]

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