前脑无裂畸形与2号染色体（p21.01-p21.09）间质性缺失

Holoprosencephaly and interstitial deletion of 2(p2101p2109).

作者信息

Wilson W G, Shanks D E, Sudduth K W, Couper K A, McIlhenny J

机构信息

Department of Pediatrics, University of Virginia Health Sciences Center, Charlottesville 22908.

出版信息

Am J Med Genet. 1989 Oct;34(2):252-4. doi: 10.1002/ajmg.1320340226.

DOI:10.1002/ajmg.1320340226

PMID:2817006

Abstract

We report on a girl with holoprosencephaly and a small, de novo interstitial deletion of most of band 2(p21). The similarity between the cytogenetic findings and CNS malformations in our patient and those recently reported by Münke et al. [Am J Med Genet 30:929-938, 1988] suggests a phenotypic relationship between deletion of this band and holoprosencephaly.

摘要

我们报告了一名患有全前脑畸形且2号染色体（p21）大部分区域存在小的新发间质性缺失的女孩。我们患者的细胞遗传学发现与中枢神经系统畸形之间的相似性，以及与Münke等人最近报道的情况[《美国医学遗传学杂志》30:929 - 938，1988]表明，该染色体带的缺失与全前脑畸形之间存在表型关系。