Partial trisomy for the short arm of chromosome 2 due to familial balanced translocation.

Autor: Sekhon, Gurbax, Taysi, Kutay, Rath, Richard
Zdroj: Human Genetics; 1978, Vol. 44 Issue 1, p99-103, 5p
Abstrakt: A partial trisomy for the short arm of chromosome 2 (p21→pter) was observed in a severely retarded infant with facial, skeletal, genital, renal, and CNS anomalies. The phenotypically normal mother and older brother had a balanced translocation between the short arm of chromosome 2 and the long arm of chromosome 14: 46,XX-XY,t(2;14)(p21;q32). [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
Externí odkaz: