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6号染色体短臂部分缺失:一名早产儿的尸检结果及文献综述

Partial deletion of chromosome 6p: autopsy findings in a premature infant and review of the literature.

作者信息

Alashari M, Chen E, Poskanzer L

机构信息

Department of Pathology, Children's Hospital Oakland, CA 94609, USA.

出版信息

Pediatr Pathol Lab Med. 1995 Nov-Dec;15(6):941-7. doi: 10.3109/15513819509027030.

Abstract

Autopsy findings for a premature infant with terminal deletion of 6p [46, XY, del(6)p23] are reported. The infant had multiple dysmorphic features, cleft lip and palate, abnormal external genitalia, diverticulum of right ventricle, and hydrocephalus with cerebellar hypoplasia, with absent corpus callosum and cerebellar vermis.

摘要

报告了一名患有6号染色体短臂末端缺失[46, XY, del(6)p23]的早产儿的尸检结果。该婴儿有多种畸形特征,唇腭裂、外生殖器异常、右心室憩室、伴有小脑发育不全的脑积水,胼胝体和小脑蚓部缺失。

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