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. 1981 Sep;33(5):745–751.

Unstable familial translocations: A t(11;22)mat inherited as a t(11;15).

D J Tomkins
PMCID: PMC1685141  PMID: 7294023

Abstract

Unusual inheritance of a reciprocal translocation, t(11;22)(p11;p12)mat was discovered in a family with one daughter having a different translocation, t(11;15)(p11;p12). Another daughter inherited the same translocation as her mother. The breakpoints through the nucleolar organizing regions (NORs) of chromosomes 15 and 22 were determined by silver staining. A review of the literature has demonstrated that such unstable familial translocations are very rare and can occur either in mitosis or meiosis. They usually involve exchanges between centromeres, telomeres, or NORs.

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Selected References

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  1. Atkins L., Bartsocas C. S. Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21, + t(15q21q) and 46,XX,-21, + t(21q21q). J Med Genet. 1974 Sep;11(3):306–309. doi: 10.1136/jmg.11.3.306. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Atkins L., Feingold M. 46,XY,21qi-46,XY,21p- mosaicism in a child with Down's syndrome. J Med Genet. 1969 Jun;6(2):206–208. doi: 10.1136/jmg.6.2.206. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Aula P., von Koskull H. Distribution of spontaneous chromosome breaks in human chromosomes. Hum Genet. 1976 May 19;32(2):143–148. doi: 10.1007/BF00291497. [DOI] [PubMed] [Google Scholar]
  4. Aymé S., Mattei J. F., Mattei M. G., Aurran Y., Giraud F. Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects. Hum Genet. 1976 Feb 29;31(2):161–175. doi: 10.1007/BF00296144. [DOI] [PubMed] [Google Scholar]
  5. Dallapiccola B., Mastroiacovo P., Gandini E. Centric fission of chromosome no. 4 in the mother of two patients with trisomy 4p. Hum Genet. 1976 Jan 28;31(1):121–125. doi: 10.1007/BF00270409. [DOI] [PubMed] [Google Scholar]
  6. Evans J. A., Canning N., Hunter A. G., Martsolf J. T., Ray M., Thompson D. R., Hamerton J. L. A cytogenetic survey of 14,069 newborn infants. III. an analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations. Cytogenet Cell Genet. 1978;20(1-6):96–123. doi: 10.1159/000130843. [DOI] [PubMed] [Google Scholar]
  7. Fryns J. P., Bulcke J., Hens L., Van den Berghe H. Balanced transmission of centromeric fission products in man. Hum Genet. 1980;54(1):127–128. doi: 10.1007/BF00279063. [DOI] [PubMed] [Google Scholar]
  8. Fryns J. P., Casaer P., Van den Berghe H. Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX, - 13, + t(13;13)(p11;q11)/46,XX,del(13)(p11). Hum Genet. 1979 Jan 25;46(2):237–241. doi: 10.1007/BF00291927. [DOI] [PubMed] [Google Scholar]
  9. Fujita H., Sakamoto Y., Hamamoto Y. An extra idic(15p)(q11) chromosome in Prader-Willi syndrome. Hum Genet. 1980;55(3):409–411. doi: 10.1007/BF00290227. [DOI] [PubMed] [Google Scholar]
  10. Gimelli G., Porro E., Santi F., Scappaticci S., Zuffardi O. "Jumping" satellites in three generations: a warning for paternity tests and prenatal diagnosis. Hum Genet. 1976 Dec 15;34(3):315–318. doi: 10.1007/BF00295297. [DOI] [PubMed] [Google Scholar]
  11. Guanti G., Maritato F. Unstable telocentric chromosome produced after centric misdivision of a 21q/21q translocated element. Hum Genet. 1978 Dec 29;45(3):355–362. doi: 10.1007/BF00278735. [DOI] [PubMed] [Google Scholar]
  12. Hansen S. A case of centric fission in man. Humangenetik. 1975;26(3):257–259. doi: 10.1007/BF00281462. [DOI] [PubMed] [Google Scholar]
  13. Holmquist G. P., Dancis B. Telomere replication, kinetochore organizers, and satellite DNA evolution. Proc Natl Acad Sci U S A. 1979 Sep;76(9):4566–4570. doi: 10.1073/pnas.76.9.4566. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Hsu T. C., Pathak S., Chen T. R. The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations. Cytogenet Cell Genet. 1975;15(1):41–49. doi: 10.1159/000130497. [DOI] [PubMed] [Google Scholar]
  15. Jacobs P. A., Buckton K. E., Christie S., Newton M., Matthew D. A family with two translocations and a polymorphism involving chromosome 14. J Med Genet. 1974 Mar;11(1):65–68. doi: 10.1136/jmg.11.1.65. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Lejeune J., Maunoury C., Prieur M., Van den Akker J. Translocation sauteuse (5p;15q), (8q;15q), (12q;15q). Ann Genet. 1979;22(4):210–213. [PubMed] [Google Scholar]
  17. Niebuhr E. A 45,XX,5-,13-,dic+ karyotype in a case of cri-du-chat syndrome. Cytogenetics. 1972;11(3):165–177. doi: 10.1159/000130186. [DOI] [PubMed] [Google Scholar]
  18. Sinha A. K., Pathak S., Nora J. J. A human family suggesting evidence for centric fission and stability of a telocentric chromosome. Hum Hered. 1972;22(5):423–429. doi: 10.1159/000152520. [DOI] [PubMed] [Google Scholar]
  19. Vianna-Morgante A. M., Nunesmaia H. G. Dissociation as probable origin of mosaic 45,XY,t(15;21)/46,XY,i(21q). J Med Genet. 1978 Aug;15(4):305–310. doi: 10.1136/jmg.15.4.305. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Wisniewski L. P., Witt M. E., Ginsberg-Fellner F., Wilner J., Desnick R. J. Prader-Willi syndrome and a bisatellited derivative of chromosome 15. Clin Genet. 1980 Jul;18(1):42–47. doi: 10.1111/j.1399-0004.1980.tb01363.x. [DOI] [PubMed] [Google Scholar]
  21. de Pina Neto J. M., Ferrari I. Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family. Am J Med Genet. 1980;5(1):25–33. doi: 10.1002/ajmg.1320050105. [DOI] [PubMed] [Google Scholar]

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