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[唐氏综合征嵌合型变体的临床特征]

[Clinical characteristics of the mosaic variant of Down's disease].

作者信息

Beliakova T K, Gavrilov V I

出版信息

Zh Nevropatol Psikhiatr Im S S Korsakova. 1975;75(10):1543-7.

PMID:128965
Abstract

The authors studied the clinical features in 19 patients with the mosaic variety of Down's disease and 63 patients with trisomia in relation to the 21st chromosome. It was demonstrated that mild forms of mental retardation are mainly seen in mosaicism rather than in the trisome variety, although severe forms of retardation may be seen in the first group as well. A full correlation between the severity of mental retardation and the % of the aneuploid cell content in the peripheral blood was not always observed.

摘要

作者研究了19例唐氏综合征嵌合型患者和63例21号染色体三体患者的临床特征。结果表明,轻度智力发育迟缓主要见于嵌合型,而非三体型,不过在第一组中也可能出现重度智力发育迟缓。智力发育迟缓的严重程度与外周血中异常倍体细胞含量的百分比之间并不总是存在完全的相关性。

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