Grundy H O, Niemeyer P, Rupani M K, Ward V F, Wassman E R
Genetics Institute, Pasadena, California 91105.
Am J Med Genet. 1989 Oct;34(2):268-70. doi: 10.1002/ajmg.1320340231.
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.
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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