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因等臂双着丝粒染色体导致的镶嵌型14三体综合征(作者译)

[Mosaic trisomy 14 due to an iso dicentric chromosome (author's transl)].

作者信息

Turleau C, de Grouchy J, Cornu A, Turquet M, Millet G

出版信息

Ann Genet. 1980;23(4):238-40.

PMID:6971604
Abstract

Mosaic trisomy 14 due to a de novo formation of an iso dicentric chromosome 14 was observed in a male negro infant who died at the age of one week. Together with three previous reports in the literature of mosaic trisomy 14, this observation allows the delineation of a syndrome characterized by intrauterine growth retardation ; craniofacial dysmorphism with frontal bossing ; hypertelorism ; microretrognathia, small, lowset, abnormally folded ears ; a translucent film over the eyes ; and congenital heart disease.

摘要

在一名1周龄死亡的黑人男婴中观察到因14号等臂双着丝粒染色体的从头形成导致的14号染色体嵌合三体。连同文献中先前关于14号染色体嵌合三体的三篇报道,该观察结果使一种以宫内生长迟缓、额部隆起的颅面畸形、眼距过宽、小颌后缩、耳朵小、低位且异常折叠、眼睛上有半透明薄膜以及先天性心脏病为特征的综合征得以明确。

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