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Pediatric Cardiology

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26.12.2017 | Original Article

Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection

verfasst von: Ruixue Cao, Sijie Liu, Chunjie Liu, Sun Chen, Fen Li, Kun Sun, Rang Xu

Erschienen in: Pediatric Cardiology | Ausgabe 3/2018

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Abstract

Anomalous pulmonary venous connection (APVC) is an uncommon congenital anomaly in which pulmonary venous blood flows directly into the right side of the heart or into the systemic veins. To identify whether there is any association between 22q11 CNVs and APVC, we analyzed the clinical data of 86 APVC patients and then studied the CNVs of 22q11 in 86 sporadic APVC patients by multiplex ligation-dependent probe amplification. The results showed that two patients carried the CNVs of 22q11, one patient had the deletion of 22q11 and the other had the duplication of 22q11. The incidence was significantly higher than that in the normal population (P < 0.01) that suggests a possible etiologic association between the duplication or deletion of 22q11 and the APVC in our patients.

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Titel: Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection
verfasst von: Ruixue Cao
Sijie Liu
Chunjie Liu
Sun Chen
Fen Li
Kun Sun
Rang Xu
Publikationsdatum: 26.12.2017
Verlag: Springer US
Erschienen in: Pediatric Cardiology / Ausgabe 3/2018
Print ISSN: 0172-0643
Elektronische ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-017-1794-3

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