筛查染色体22q11.2缺失综合征在先天性心血管畸形中的意义

染色体22q11.2缺失综合征(22q111DS)又称DiGeorge综合征、腭-心-面综合征,临床表现极具多样性,可累及心血管、免疫系统、面容、内分泌系统,甚至语言发育、精神等多方面.荧光原位杂交能够检测到染色体22q11.2缺失.目前国内对本病认识尚不足,尚未建立规范的临床筛查体系,确诊率亦低.已报道的22q11D...

Significance of screening chromosome 22q11.2 deletion syndrome in the congenital cardiovascular abnormalities

Chromosome 22q11.2 deletion syndrome,also called DiGeorge syndrome or Velo-CardiacFacial syndrome,has all expansive phenotype involving essentially every organ and system,such as cardiovascular abnormalities,abnormal face,immunodeficiency,even psychiatric illnesses,and etc.Fluorescence in situ hybridization analysis test for the microdeletion from chromosome 22 at the q11.2 band is the comqrmed diagnostic method So far,it has not been known thoroughly in China and there has not been a normative screening system yet.Close relations between the microdeletion and congenital cardiovascular abnormalities especially conotruncal cardiac defects and arcus aortae abnormalities have been shown in reported cases.This review will describe the 22q11 DS and how to screen it in the congenital cardiovascular abnormalities so that it Can be diagnosed early and managed properly.which will benefit the patients and their later generations.