Prenatal diagnosis of 22q11 microdeletion syndrome.
- VernacularTitle:22q11微缺失综合征的产前诊断
- Author:
Meiying CAI
1
;
Hailong HUANG
;
Na LIN
;
Nan GUO
;
Xiaoqing WU
;
Linjuan SU
;
Liangpu XU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Chromosome Deletion; Chromosomes, Human, Pair 22; genetics; DiGeorge Syndrome; diagnosis; embryology; genetics; Female; Fetal Diseases; diagnosis; genetics; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Pregnancy; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2017;34(2):192-195
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome.
METHODSBACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome.
RESULTS22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13.3 ARSA site.
CONCLUSIONThe combination of prenatal BoBs and FISH can provide a method for the prenatal diagnosis of 22q11 microdeletion.
