14号染色体长臂远端三体

定义 英文原文（暂无中文）

Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.

别名

14号染色体长臂末端着丝粒重复

基本事实

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 10

外部标识与链接