Abstract
A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bijlsma J. B., de France H., Bleeker-Wagemakers E. M. Duplication deficiency syndrome in familial translocation (2q-;5p+). Humangenetik. 1971;12(2):110–122. doi: 10.1007/BF00291466. [DOI] [PubMed] [Google Scholar]
- Forabosco A., Dutrillaux B., Toni G., Tamborino G., Cavazzuti G. Translocation équilibrée t(2; 13) (q32; q33) familiale et risomie 2q partielle. Ann Genet. 1973 Dec;16(4):255–258. [PubMed] [Google Scholar]
- Francke U. Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. Am J Hum Genet. 1972 Mar;24(2):189–213. [PMC free article] [PubMed] [Google Scholar]
- Hungerford D. A. Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl. Stain Technol. 1965 Nov;40(6):333–338. doi: 10.3109/10520296509116440. [DOI] [PubMed] [Google Scholar]
- Kroyer S., Niebuhr E. Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23). Ann Genet. 1975 Mar;18(1):50–55. [PubMed] [Google Scholar]
- Laurent C., Bovier-Lapierre M., Dutrillaux B. Trisomie 10 partielle par translocation familiale t(1;10)(q44;q22. Humangenetik. 1973;18(4):321–327. doi: 10.1007/BF00291129. [DOI] [PubMed] [Google Scholar]
- Lozzio C. B., Kattine A. A. Familial transmission of a chromosomal translocation t(2q+;Cp-). J Med Genet. 1969 Jun;6(2):174–179. doi: 10.1136/jmg.6.2.174. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Mace M. A., Noades J., Robson E. B., Hultén M., Lindsten J., Polani P. E., Jacobs P. A., Buckton K. E. Segregation of ACP1 and MNSs in families with structural rearrangements involving chromosome 2. Ann Hum Genet. 1975 May;38(4):479–484. doi: 10.1111/j.1469-1809.1975.tb00637.x. [DOI] [PubMed] [Google Scholar]
- Mulcahy M. T., Jenkyn J., Masters P. L. A familial 10/13 translocation: partial trisomy C in an infant associated with familial 10/13 translocation. Clin Genet. 1974;6(5):335–340. doi: 10.1111/j.1399-0004.1974.tb02256.x. [DOI] [PubMed] [Google Scholar]
- Ricci N., Dallapiccola B., Cotti G. Translocation 2-d familiale. Ann Genet. 1968 Jun;11(2):111–113. [PubMed] [Google Scholar]
- Roux C., Taillemite J. L., Baheux-Morlier G. Trisomie partielle 10q par translocation familiale t(10q-; 22p-plus) Ann Genet. 1974 Mar;17(1):59–62. [PubMed] [Google Scholar]
- Sumner A. T., Evans H. J., Buckland R. A. New technique for distinguishing between human chromosomes. Nat New Biol. 1971 Jul 7;232(27):31–32. doi: 10.1038/newbio232031a0. [DOI] [PubMed] [Google Scholar]
- Talvik T., Mikelsaar A. V., Mikelsaar R., Käosaar M., Tür S. Inherited translocations in two families (t(14q+;10q-) and t(13q-;21q+)). Humangenetik. 1973 Sep 20;19(3):215–226. doi: 10.1007/BF00278394. [DOI] [PubMed] [Google Scholar]
- Yunis J. J., Sanchez O. A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. J Pediatr. 1974 Apr;84(4):567–570. doi: 10.1016/s0022-3476(74)80683-9. [DOI] [PubMed] [Google Scholar]
- de Grouchy J., Finaz C., Roubin M., Roy J. Deux translocations familiales survenues ensemble chez chacune de deuc soeurs, l'une équilibrée, l'autre trisomique partielle 10q. Ann Genet. 1972 Jun;15(2):85–92. [PubMed] [Google Scholar]