先天性心脏病相关综合征的遗传学研究

Genetics of Syndromes with Congenital Heart Disease

先天性心脏病(congenitalheartdisease,CHD)是儿科常见的疾病,现已发现约有300多种临床综合征伴有CHD.对Alagille综合征、CHARGE联合征、Holt-Oram综合征、Noonan综合征、Turner综合征、VACTERL联合征、Williams综合征、22q11缺失综合征和13、18、21三体综合征与CHD相关流行病学、临床表型、遗传病因和诊断及其再发风险进行了综述,为产前和产后临床诊断,了解疾病预后和再发概率提供资料.

Congenital heart disease（CHD） is the common disorder in the pediatrics, there are more than 300 clinical syndromes associated with CHD at present. It concentrates some aspects on the Alagille syndrome, CHARGE syndromes, Hoh-Oram syndrome, Noonan syndrome, Turner syndrome, VACTERL syndromes, Williams syndrome, 22ql 1 deletion syndrome and 13, 18, 21 trisomy syndrome related with genetical CHD, including their epidemiology, clinical phenotype, heredity aetiology and clinical diagnosis, so as to provide some clinical information for prenatal and neonatal diagnosis, conjecturing the prognosis and risk of recurrence.