CECR - cat eye syndrome chromosome region Gene

中文名称：猫眼综合征染色体区域

种属: Homo sapiens

同用名: CES

关于 CECR

功能概要

猫眼综合征 (CES) 的临床特征是虹膜缺损和肛门闭锁伴有瘘管、下斜睑裂、耳前赘生物和/或凹陷，经常发生心脏和肾脏畸形，以及正常或接近正常的智力发育.存在一条小的多生染色体 (小于 21 号染色体) ，通常有 2 个着丝粒，双卫星，代表 inv dup (22) (q11) 。[OMIM 提供，2009 年 8 月]

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]