Clinical detection of 22q11 microdeletion in the patients with congenital heart disease by multiplex ligation dependent probe amplification

OBJECTIVE: To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects

Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 49(2011), 4 vom: 31. Apr., Seite 316-9
1. Verfasser: Chen, Ying (VerfasserIn)
Weitere Verfasser: Kan, Hui-Juan, Mao, Jun, Ding, Jie, Meng, Qing-Xia, Li, Hai-Bo, Cheng, Hong-Bo, Liu, Min-Juan, Sun, Ying, Yan, Wen-Hua, Li, Hong
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2011
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:English Abstract Journal Article Research Support, Non-U.S. Gov't
Beschreibung
Zusammenfassung:OBJECTIVE: To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects
METHOD: MLPA 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
RESULT: Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion
CONCLUSION: Three cases had 22q11 microdeletion in the congenital heart defects
Beschreibung:Date Completed 03.11.2011
Date Revised 07.06.2016
published: Print
Citation Status MEDLINE
ISSN:0578-1310