特纳/唐氏嵌合体。病例报告。
Turner/Down mosaicism. A case report.
作者信息
Jansen S, Kruger A J, Liebenberg G
机构信息
Department of Neurology, University of the Orange Free State, Bloemfontein, R.S.A.
出版信息
S Afr Med J. 1991 Jun 15;79(12):731-2.
PMID:1828633
Abstract
A 45,X/47,XX, +21 mosaicism (80%:20%) in a young girl with clinical features of Down syndrome is reported. The proportion of 45,X:47,XX, +21 cells present in peripheral lymphocytes does not necessarily have a profound effect on the phenotype. A possible explanation for the occurrence of double aneuploidy is given.
摘要
报道了一名患有唐氏综合征临床特征的年轻女孩存在45,X/47,XX,+21嵌合体（80%:20%）。外周血淋巴细胞中45,X:47,XX,+21细胞的比例不一定会对表型产生深远影响。文中给出了双非整倍体发生的一种可能解释。
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