Significance of screening chromosome 22q11.2 deletion syndrome in the congenital cardiovascular abnormalities / 国际儿科学杂志

ABSTRACT

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.