An Inherited Small Extra Chromosome: A Mother with 46,XX,t(17;22) (p1;q1) and a Son with 47,XY,+der(22) mat.

Autor: Borgaonkar, Digamber S., McKusick, Victor A., Farber, Phillip A.
Zdroj: Journal of Medical Genetics; Dec1973, Vol. 10 Issue 4, p379-384, 6p
Abstrakt: A boy with multiple congenital anomalies was found to have a small extra chromosome. This small chromosome was interpreted as a der(22)mat because his mother was a balanced carrier with 46,XX,t(17;22) (p1;q1) chromosomes. It is hoped that with the use of the banding techniques many karyotypes will be revaluated and reinterpreted. The mother's karyotype was erroneously interpreted earlier as a 21/22 translocation. [ABSTRACT FROM PUBLISHER]
Databáze: Complementary Index