Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.
Open Access
- 1 December 1976
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 13 (6) , 507-510
- https://doi.org/10.1136/jmg.13.6.507
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.This publication has 15 references indexed in Scilit:
- A familial 10/13 translocation: partial trisomy C in an infant associated with familial 10/13 translocationClinical Genetics, 2008
- Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).1975
- A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10The Journal of Pediatrics, 1974
- [Partial trisomy 10q dueto familial translocation t(10q-; 22p-plus)].1974
- [Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q].1973
- Trisomie 10 partielle par translocation familiale t(1;10) (q44;q22)Human Genetics, 1973
- Inherited translocations in two families (t(14q+;10q?) and t(13q?;21q+))Human Genetics, 1973
- [2 familial translocations occurring together in each of 2 sisters, one balanced, the other partial trisomic 10q].1972
- Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations.1972
- New Technique for Distinguishing between Human ChromosomesNature New Biology, 1971