布卢姆综合征
别名(英)
BLS,BS,MGRISCE1,Microcephaly, growth restriction, and increased sister chromatid exchange 1
别名
BLS、BS、MGRISCE1、小头畸形、生长受限和姐妹染色单体交换增加 1
统计
reviewed:1; annotated:0
交叉引用
210900,C0005859,D001816
描述(英)
An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.
描述
一种常染色体隐性遗传病。它的特点是出生前后成比例的生长缺陷、对阳光敏感的毛细血管扩张性皮肤色素减退和色素沉着过度、易患恶性肿瘤和染色体不稳定。