3q13微缺失综合征

定义 英文原文（暂无中文）

3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.

别名

3q13单体

基本事实

遗传方式

不适用

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 17

外部标识与链接