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

作者：Cao, Ruixue; Liu, Sijie; Liu, Chunjie; Chen, Sun; Li, Fen; Sun, Kun; Xu, Rang^*

来源：Pediatric Cardiology, 2018, 39(3): 585-590.

DOI：10.1007/s00246-017-1794-3

• Anomalous pulmonary venous connection
• Pathogenesis
• Copy number variants
• 22q11

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.

• 出版日期2018-3
• 单位上海交通大学; 温州医科大学