虹膜缺损、上睑下垂、眼距过宽及智力发育迟缓：一种可能定位于2号染色体的新综合征。
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
作者信息
Pallotta R
机构信息
Istituto di Pediatria e Ostetricia, Ospedale Pediatrico, Chieti, Italy.
出版信息
J Med Genet. 1991 May;28(5):342-4. doi: 10.1136/jmg.28.5.342.
Abstract
A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.
摘要
本文描述了一名患者，其表型与最近报道的三名儿童相似。他的核型显示2号染色体臂间倒位，与之前报道的另一名儿童非常相似。我们讨论了所有这些病例构成一种独特综合征的可能性。
Zotero 插件