19号染色体长臂远端三体

定义 英文原文（暂无中文）

Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.

别名

19号染色体长臂末端着丝粒重复

基本事实

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

外部标识与链接