Wilson W G, Shanks D E, Sudduth K W, Couper K A, McIlhenny J
Department of Pediatrics, University of Virginia Health Sciences Center, Charlottesville 22908.
Am J Med Genet. 1989 Oct;34(2):252-4. doi: 10.1002/ajmg.1320340226.
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.
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。
