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产前检测出与2号染色体短臂间质缺失相关的独眼畸形。

Prenatal detection of cyclopia associated with interstitial deletion of 2p.

作者信息

Grundy H O, Niemeyer P, Rupani M K, Ward V F, Wassman E R

机构信息

Genetics Institute, Pasadena, California 91105.

出版信息

Am J Med Genet. 1989 Oct;34(2):268-70. doi: 10.1002/ajmg.1320340231.

Abstract

We report on a case of synophthalmic cyclopia and alobar holoprosencephaly associated with an interstitial deletion of the short arm of chromosome 2: del(2)(p21p23). This is the second case with this phenotype in association with deletion in this region, and comparison with the infrequent other cases of 2p deletions suggests a causal relationship between band 2p21 and cyclopia.

摘要

我们报告了一例双眼融合性独眼畸形和叶状全前脑畸形,伴有2号染色体短臂的间质性缺失:del(2)(p21p23)。这是该表型与该区域缺失相关的第二例病例,与罕见的其他2p缺失病例比较表明,2p21带与独眼畸形之间存在因果关系。

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