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
Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 49(2011), 4 vom: 31. Apr., Seite 316-9 |
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Auteur principal: | |
Autres auteurs: | , , , , , , , , , |
Format: | Article |
Langue: | Chinese |
Publié: |
2011
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Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
Sujets: | English Abstract Journal Article Research Support, Non-U.S. Gov't |
Résumé: | 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 |
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Description: | Date Completed 03.11.2011 Date Revised 07.06.2016 published: Print Citation Status MEDLINE |
ISSN: | 0578-1310 |