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

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

To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects. 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. Two cases from the fetuses and 1 case f...

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Veröffentlicht in:Zhonghua er ke za zhi 2011-04, Vol.49 (4), p.316-319
Hauptverfasser: Chen, Ying, 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: Artikel
Sprache:chi
Schlagworte:
Child
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 22
Female
Heart Defects, Congenital - diagnosis
Heart Defects, Congenital - genetics
Humans
Infant
Male
Nucleic Acid Amplification Techniques - methods
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Zusammenfassung:To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects. 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. Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion. Three cases had 22q11 microdeletion in the congenital heart defects.
ISSN:0578-1310