Down syndrome in two siblings with 47,XY,+21 and 46,XY/46,XY,-21,+t(21q;21q).
作者信息
Der Kaloustian V M, Masri R, Khudr A, Talj F, Libbus B, Nabulsi M, Khouri F P
出版信息
Hum Genet. 1987 Jan;75(1):97. doi: 10.1007/BF00273853.
PMID:2948900
Abstract
This is the first report in the literature of siblings affected with Down syndrome; one sibling had a nondisjunction of chromosome 21 and the other a (21q;21q) translocation.
摘要
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