ArticlePediatric cardiology2018
Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection.
Article in Pediatric cardiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.Clinical reviews in allergy & immunology · 2025Review
- The frequency and efficacy of genetic testing in individuals with scimitar syndrome.Cardiology in the young · 2022Article
- Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion.Case reports in genetics · 2021Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
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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