双胎妊娠中22q11.2缺失综合征的产前诊断：一例报告

Prenatal diagnosis of 22q11.2 deletion syndrome in twin pregnancy: a case report.

作者信息

Gul Ahmet, Gungorduk Kemal, Turan Isil, Yildirim Gokhan, Gedikbasi Ali, Ozdemir Aykut

机构信息

Maternal and Fetal Unit, Istanbul Bakirkoy Women and Children Hospital, Istanbul, Turkey.

出版信息

J Clin Ultrasound. 2013 Nov-Dec;41 Suppl 1:6-9. doi: 10.1002/jcu.21992. Epub 2012 Sep 20.

DOI:10.1002/jcu.21992

PMID:22997003

Abstract

Chromosome 22q11.2 deletion syndrome is a common genetic disorder, also known as DiGeorge syndrome. It occurs in approximately 1:4,000 births, and the incidence is increasing due to affected parents bearing their own affected children. We report the prenatal diagnosis of 22q11.2 deletion syndrome by fluorescence in situ hybridization in twin fetuses having tetralogy of Fallot with absent pulmonary valve.

摘要

22q11.2缺失综合征是一种常见的遗传疾病，也称为迪乔治综合征。其发病率约为1/4000活产儿，且由于患病父母生育自己患病子女，发病率呈上升趋势。我们报告了通过荧光原位杂交对患有法洛四联症且肺动脉瓣缺如的双胎胎儿进行22q11.2缺失综合征的产前诊断。