Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1980 Oct;17(5):373–379. doi: 10.1136/jmg.17.5.373

Clinical manifestations of familial 13;18 translocation.

W A Blattner, M L Kistenmacher, S Tsai, H H Punnett, E R Giblett
PMCID: PMC1048601  PMID: 7218277

Abstract

Female first cousins, aged 21 and 2 1/2 years, with many of the characteristic features of trisomy 18, were found to have identical unbalanced translocations, 46,XX,--13, + der(13)t(13;18) (p13;q12)mat. Clinical features of another cousin, two uncles, and an aunt suggested that they, too, had a partial trisomy 18 phenotype. The long survival and normal menstrual and secondary sexual development in one case are remarkable. A heritable balanced translocation, 46,XX or XY, t(13;18) (p13;q12), was detected in the mothers of the cases, a sib, an aunt, and two uncles. Translocation carriers had abnormalities in gonadal structure or function, with aspermia in males and polycystic ovaries with infertility in several females, suggesting that some gene controlling reproductive development occurs on the long arm of chromosome 18, with normal function interrupted at the breakpoint. Balanced translocation carriers may also be at greater risk for both benign and malignant neoplasms, which included acute leukaemia in an uncle and adenocarcinoma of the stomach at an early age in the grandmother. Although aetiological laboratory studies identified no premalignant state, the clinical findings suggest a defect that may predispose to cytogenetic abnormalities and malignancy.

Full text

PDF
373

Images in this article

374Image
on p.374
375Image
on p.375
376Image
on p.376
376Image
on p.376
377Image
on p.377

Selected References

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

  1. Chandley A. C., Christie S., Fletcher J., Frackiewicz A., Jacobs P. A. Translocation heterozygosity and associated subfertility in man. Cytogenetics. 1972;11(6):516–533. doi: 10.1159/000130218. [DOI] [PubMed] [Google Scholar]
  2. 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]
  3. Cohen A. J., Li F. P., Berg S., Marchetto D. J., Tsai S., Jacobs S. C., Brown R. S. Hereditary renal-cell carcinoma associated with a chromosomal translocation. N Engl J Med. 1979 Sep 13;301(11):592–595. doi: 10.1056/NEJM197909133011107. [DOI] [PubMed] [Google Scholar]
  4. Craig-Holmes A. P., Moore F. B., Shaw M. W. Polymorphism of human C-band heterochromatin. I. Frequency of variants. Am J Hum Genet. 1973 Mar;25(2):181–192. [PMC free article] [PubMed] [Google Scholar]
  5. Dean J. H., Connor R., Herberman R. B., Silva J., McCoy J. L., Oldham R. K. The relative proliferation index as a more sensitive parameter for evaluating lymphoproliferative responses of cancer patients to mitogens and alloantigens. Int J Cancer. 1977 Sep 15;20(3):359–370. doi: 10.1002/ijc.2910200307. [DOI] [PubMed] [Google Scholar]
  6. Ford C. E., Clegg H. M. Reciprocal translocations. Br Med Bull. 1969 Jan;25(1):110–114. doi: 10.1093/oxfordjournals.bmb.a070659. [DOI] [PubMed] [Google Scholar]
  7. Garson O. M., Milligan W. J. Acute leukaemia associated with an abnormal genotype. Scand J Haematol. 1974;12(4):256–262. doi: 10.1111/j.1600-0609.1974.tb00207.x. [DOI] [PubMed] [Google Scholar]
  8. Goh K. O. Smaller G (Gp-) and t (Gp-; Dp+) chromosomes. A familial study with one member having acute leukemia. Am J Dis Child. 1968 Jun;115(6):732–738. [PubMed] [Google Scholar]
  9. Hansmann I. Structural variability of human chromosome 9 in relation to its evolution. Hum Genet. 1976 Mar 12;31(3):247–262. doi: 10.1007/BF00270855. [DOI] [PubMed] [Google Scholar]
  10. Hinkes E., Crandall B. F., Weber F., Craddock C. G. Acute leukemia with C-G chromosome translocation. Blood. 1973 Feb;41(2):259–263. [PubMed] [Google Scholar]
  11. Hodes M. E., Cole J., Palmer C. G., Reed T. Clinical experience with trisomies 18 and 13. J Med Genet. 1978 Feb;15(1):48–60. doi: 10.1136/jmg.15.1.48. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Jacobs P. A., Melville M., Ratcliffe S., Keay A. J., Syme J. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet. 1974 May;37(4):359–376. doi: 10.1111/j.1469-1809.1974.tb01843.x. [DOI] [PubMed] [Google Scholar]
  13. Knudson A. G., Jr Genetics and etiology of human cancer. Adv Hum Genet. 1977;8:1–66. doi: 10.1007/978-1-4615-8267-0_1. [DOI] [PubMed] [Google Scholar]
  14. Lucas M., Wallace I., Hirschhorn K. Recurrent abortions and chromosome abnormalities. J Obstet Gynaecol Br Commonw. 1972 Dec;79(12):1119–1127. doi: 10.1111/j.1471-0528.1972.tb11898.x. [DOI] [PubMed] [Google Scholar]
  15. Léonard C., Bisson J. P., David G. Male sterility associated with familial translocation heterozygosity: t(8;15) (q22;p11). Arch Androl. 1979 May;2(3):269–275. doi: 10.3109/01485017908987324. [DOI] [PubMed] [Google Scholar]
  16. Riccardi V. M., Humbert J. R., Peakman D. Acute leukemia associated with trisomy 8 mosaicism and a familial translocation 46,XY,t(7;20)(p13;p12). Am J Med Genet. 1978;2(1):15–21. doi: 10.1002/ajmg.1320020104. [DOI] [PubMed] [Google Scholar]
  17. Scheres J. M. Production of C and T bands in human chromosomes after heat treatment at high pH and staining with "stains-all". Humangenetik. 1974;23(4):311–314. doi: 10.1007/BF00272515. [DOI] [PubMed] [Google Scholar]
  18. Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. doi: 10.1016/s0140-6736(71)90287-x. [DOI] [PubMed] [Google Scholar]
  19. Taylor A. I. Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome. J Med Genet. 1968 Sep;5(3):227–252. doi: 10.1136/jmg.5.3.227. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Terasaki P. I., Bernoco D., Park M. S., Ozturk G., Iwaki Y. Microdroplet testing for HLA-A, -B, -C, and -D antigens. The Phillip Levine Award Lecture. Am J Clin Pathol. 1978 Feb;69(2):103–120. doi: 10.1093/ajcp/69.2.103. [DOI] [PubMed] [Google Scholar]
  21. Varley J. M. Patterns of silver staining of human chromosomes. Chromosoma. 1977 May 23;61(3):207–214. doi: 10.1007/BF00292805. [DOI] [PubMed] [Google Scholar]
  22. Wang H. C., Fedoroff S. Banding in human chromosomes treated with trypsin. Nat New Biol. 1972 Jan 12;235(54):52–54. doi: 10.1038/newbio235052a0. [DOI] [PubMed] [Google Scholar]
  23. Weber W. W. Survival and the sex ratio in trisomy 17-18. Am J Hum Genet. 1967 May;19(3 Pt 2):369–377. [PMC free article] [PubMed] [Google Scholar]
  24. Zuelzer W. W., Thompson R. I., Mastrangelo R. Evidence for a genetic factor related to leukemogenesis and congenital anomalies: chromosomal aberrations in pedigree of an infant with partial D trisomy and leukemia. J Pediatr. 1968 Mar;72(3):367–376. doi: 10.1016/s0022-3476(68)80210-0. [DOI] [PubMed] [Google Scholar]

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

RESOURCES