Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.

Autor: Sills, J A, Buckton, K E, Raeburn, J A
Zdroj: Journal of Medical Genetics; Dec1976, Vol. 13 Issue 6, p507-510, 4p
Abstrakt: 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. [ABSTRACT FROM PUBLISHER]
Databáze: Complementary Index