Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1985 Dec;22(6):484–491. doi: 10.1136/jmg.22.6.484

Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination.

S Walker, P J Howard, D Hunter
PMCID: PMC1049510  PMID: 3841161

Abstract

A family showing a complex translocation between chromosomes 7, 8, and 9 with breakpoints at 7q21, 7q33, 8p23, and 9p23 is described. The proband had been referred because of repeated spontaneous abortions. This is only the second family to be ascertained in this way. Twenty-three other cases of complex translocations are briefly reviewed, eight of which were de novo in origin and 15 familial. All but one of the familial cases showed maternal transmission only. The present family shows both maternal and paternal transmission and is thought to be the first exhibiting recombination from a male carrier. The origin and transmission of the complex translocation is followed through three generations.

Full text

PDF
484

Images in this article

Selected References

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

  1. Allderdice P. W., Miller O. J., Miller D. A., Breg W. R., Gendel E., Zelson C. Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence. Humangenetik. 1971;13(3):205–209. doi: 10.1007/BF00326943. [DOI] [PubMed] [Google Scholar]
  2. Ballesta F., Fernández E., Milá M. Translocation t (1;8;15) maternelle et trisomie 8qter chez la fille. Conseil génétique. J Genet Hum. 1980 Sep;28(3):361–366. [PubMed] [Google Scholar]
  3. Bass H. N., Sparkes R. S., Lessner M. M., Fox M., Phoenix B., Bernar J. A family with three independent autosomal translocations associated with 7q32----7qter syndrome. J Med Genet. 1985 Feb;22(1):59–63. doi: 10.1136/jmg.22.1.59. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Berger R., Derre J., Ortiz M. A. Les trisomies partielles du bras long du chromosome 7. Nouv Presse Med. 1974 Sep 7;3(29):1801–1804. [PubMed] [Google Scholar]
  5. Buchanan P. D., Rao K. W., Doerr C. L., Aylsworth A. S. A complex translocation involving chromosomes 3,11, and 14 with an interstitial deletion, del(14) (q13q22) in a child with congenital glaucoma and cleft lip and palate. Birth Defects Orig Artic Ser. 1978;14(6C):317–322. [PubMed] [Google Scholar]
  6. Chandley A. C., Edmond P., Christie S., Gowans L., Fletcher J., Frackiewicz A., Newton M. Cytogenetics and infertility in man. I. Karyotype and seminal analysis: results of a five-year survey of men attending a subfertility clinic. Ann Hum Genet. 1975 Oct;39(2):231–254. doi: 10.1111/j.1469-1809.1975.tb00126.x. [DOI] [PubMed] [Google Scholar]
  7. Couzin D. A., Watt J. L., Auchterlonie I. A. A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation. J Med Genet. 1983 Oct;20(5):389–392. doi: 10.1136/jmg.20.5.389. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Creasy M. R., Crolla J. A., Daker M. G. A familial reciprocal translocation between three chromosomes. Humangenetik. 1974;24(4):303–308. doi: 10.1007/BF00297594. [DOI] [PubMed] [Google Scholar]
  9. Dallapiccola B., Bollea G., Mazzilli C., Gandini E. Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome. Hum Genet. 1976 Jul 7;33(1):73–76. doi: 10.1007/BF00447289. [DOI] [PubMed] [Google Scholar]
  10. Fujita H., Abe T., Yamamoto K., Furuyama J. Possible complex translocation t(9;14;13) (q12;pl?;Q31) in mother of a child with 9-p trisomy syndrome. Humangenetik. 1974;25(2):83–92. doi: 10.1007/BF00283308. [DOI] [PubMed] [Google Scholar]
  11. Hustinx T. W., Nabben F. A., Scheres J. M. Partial trisomy of chromosome 1 resulting from a complex maternal rearrangement of chromosomes 1, 5, and 6. Am J Med Genet. 1979;3(4):353–358. doi: 10.1002/ajmg.1320030406. [DOI] [PubMed] [Google Scholar]
  12. Joseph A., Thomas I. M. A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility. J Med Genet. 1982 Oct;19(5):375–377. doi: 10.1136/jmg.19.5.375. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Martinetti J., Noel B. Remaniement complexe de novo touchant quatre chromosomes chez un nouveau-né. Ann Genet. 1973 Dec;16(4):285–288. [PubMed] [Google Scholar]
  14. Muneer R. S., Donaldson D. L., Rennert O. M. Complex balanced translocation of chromosomes 2, 3, and 13. Hum Genet. 1981;59(2):182–184. doi: 10.1007/BF00293074. [DOI] [PubMed] [Google Scholar]
  15. Pai G. S., Thomas G. H., Mahoney W., Migeon B. R. Complex chromosome rearrangements. Report of a new case and literature review. Clin Genet. 1980 Dec;18(6):436–444. doi: 10.1111/j.1399-0004.1980.tb01790.x. [DOI] [PubMed] [Google Scholar]
  16. Palmer C. G., Poland C., Reed T., Kojetin J. Partial trisomy 11,46,XX,-3,-20, + der3, + der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20. Hum Genet. 1976 Feb 29;31(2):219–225. doi: 10.1007/BF00296149. [DOI] [PubMed] [Google Scholar]
  17. Rodriguez M. T., Martin M. J., Abrisqueta J. A. A complex balanced rearrangement involving four chromosomes in an azoospermic man. J Med Genet. 1985 Feb;22(1):66–67. doi: 10.1136/jmg.22.1.66. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Sanchez O., Yunis J. J., Escobar J. I. Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13. Humangenetik. 1974 Apr 24;22(1):59–65. doi: 10.1007/BF00338135. [DOI] [PubMed] [Google Scholar]
  19. Schwartz S., Beisel J. H., Panny S. R., Cohen M. M. A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome. Clin Genet. 1985 Feb;27(2):175–182. doi: 10.1111/j.1399-0004.1985.tb00207.x. [DOI] [PubMed] [Google Scholar]
  20. Schwinger E., Mikkelsen M., Niesen M. Familial balanced (7;11;21) translocation and Down's syndrome in two siblings. Clin Genet. 1975 Apr;7(4):304–307. doi: 10.1111/j.1399-0004.1975.tb00333.x. [DOI] [PubMed] [Google Scholar]
  21. Seabright M., Gregson N., Pacifico E., Mould S., Ryde J., Pearson J., Bradley A. Rearrangements involving four chromosomes in a child with congenital abnormalities. Cytogenet Cell Genet. 1978;20(1-6):150–154. doi: 10.1159/000130846. [DOI] [PubMed] [Google Scholar]
  22. Tabor A., Jensen L. K., Lundsteen C., Niebuhr E. A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child. J Med Genet. 1981 Aug;18(4):307–309. doi: 10.1136/jmg.18.4.307. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Tanaka N., Ikeuchi T., Yara I., Kitahara K. Trisomy 9p due to a maternal complex translocation involving chromosomes 4, 6 and 9. Jinrui Idengaku Zasshi. 1977 Mar;21(4):261–268. [PubMed] [Google Scholar]

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

RESOURCES