[一名19岁女孩的45,X/47,XY,+13嵌合体]
[45, X/47, XY, +13 mosaicism in a 19-year-old girl].
作者信息
Prieur M, Dutrillaux B, Lafourcade J, Roy C, Lejeune J
出版信息
Ann Genet. 1976 Sep;19(3):199-202.
PMID:1086629
Abstract
The 45, X/47, XY, +13 mosaicism was observed in a 19-year-old mentally deficient girl who was examined because of primary amenorrhea. Certain clinical features were reminiscent of Turner's syndrome, while no features of trisomy 13 were present. The study of blood groups, HLA genotypes, and cytogenetic markers provided no evidence of chimerism.
摘要
在一名19岁因原发性闭经接受检查的智力缺陷女孩中观察到45,X/47,XY,+13嵌合体。某些临床特征使人联想到特纳综合征，而未出现13三体的特征。血型、HLA基因型和细胞遗传学标志物的研究未提供嵌合体的证据。
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