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[近期一例12号染色体短臂三体病例的细胞遗传学研究]

[Cytogenetic study of a recent case of trisomy 12p].

作者信息

André M J

出版信息

Bull Assoc Anat (Nancy). 1976 Sep;60(170):455-63.

PMID:1028442
Abstract

A case of trisomy for the short arm and a part of the long arm of chromosome 12 is reported. Before the pregnancy sterility was noted during several years. Birth weight was normal; the newborn with multiple congenital defects died before the 4th day. Her mother, grandmother, and two brothers of the latter showed a balanced translocation t (5 ; 12) (p15 ; q132). The affected child inherited the derived 12 as a 47th chromosome.

摘要

报告了一例12号染色体短臂及部分长臂三体的病例。妊娠前数年存在不育情况。出生体重正常;患有多种先天性缺陷的新生儿在第4天前死亡。其母亲、祖母以及祖母的两个兄弟显示出平衡易位t(5;12)(p15;q132)。患病儿童继承了衍生的12号染色体作为第47条染色体。

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