Clinical detection of 22q11 microdeletion in the patients with congenital heart disease by multiplex ligation dependent probe amplification.
- Author:
Ying CHEN
1
;
Hui-Juan KAN
;
Jun MAO
;
Jie DING
;
Qing-Xia MENG
;
Hai-Bo LI
;
Hong-Bo CHENG
;
Min-Juan LIU
;
Ying SUN
;
Wen-Hua YAN
;
Hong LI
Author Information
- Publication Type:Journal Article
- MeSH: Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Female; Heart Defects, Congenital; diagnosis; genetics; Humans; Infant; Male; Nucleic Acid Amplification Techniques; methods
- From: Chinese Journal of Pediatrics 2011;49(4):316-319
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.
METHODMLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.
RESULTTwo cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion.
CONCLUSIONThree cases had 22q11 microdeletion in the congenital heart defects.
