Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection.
Pediatr Cardiol
; 39(3): 585-590, 2018 Mar.
Article
en En
| MEDLINE
| ID: mdl-29279955
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Cimitarra
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Cromosomas Humanos Par 22
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Deleción Cromosómica
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Duplicación Cromosómica
Tipo de estudio:
Etiology_studies
/
Risk_factors_studies
Límite:
Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Pediatr Cardiol
Año:
2018
Tipo del documento:
Article