一例罕见的嵌合型唐氏综合征46,XY/46,XY, -21, +i(21q)。
A rare case of mosaic Down syndrome 46,XY/46,XY, -21, +i(21q).
作者信息
Uchida I A, Whelan D T
出版信息
Clin Genet. 1980 Apr;17(4):271-4. doi: 10.1111/j.1399-0004.1980.tb00146.x.
Abstract
Detailed studies were carried out on a patient with a rare type of mosaicism which gave rise to an effective 21 trisomy. The clinical signs of Down syndrome were minimal. The cytogenetic interpretation is that the abnormal clone had an isochromosome derived from a maternal No. 21. The normal cell line appears to be replacing the abnormal clone.
摘要
对一名患有罕见类型嵌合体的患者进行了详细研究，该嵌合体导致有效的21三体。唐氏综合征的临床症状很轻微。细胞遗传学解释是异常克隆有一条源自母亲21号染色体的等臂染色体。正常细胞系似乎正在取代异常克隆。
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