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Complex congenital cardiac disease in a patient with partial trisomy for the long arms of chromosomes 11 and 22

Published online by Cambridge University Press:  24 May 2005

Claudia Chetcuti-Ganado  and
Victor Grech
Claudia Chetcuti-Ganado
Affiliation:
Paediatric Department, St Luke's Hospital, Guardamangia, Malta
Victor Grech
Affiliation:
Paediatric Department, St Luke's Hospital, Guardamangia, Malta
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Abstract

Abnormalities of chromosomes 11 and 22 are associated with congenital cardiac disease and/or various syndromes. We present a patient with partial trisomy for the long arms of chromosomes 11 and 22, the result of a maternal balanced reciprocal translocation between these two chromosomes. Our patient was dysmorphic and had coarctation of the aorta, an atrioventricular septal defect with common atrioventricular junction and exclusively atrial shunting, patency of the arterial duct, supracardiac totally anomalous pulmonary venous connection, a single kidney, and tracheobronchomalacia. This patient is unusual in having extensive left-sided cardiac involvement, a feature not usually found in this condition.

Keywords

Chromosomes, human, pair 11aortic coarctationheart septal defectspatent arterial duct
Type
Brief Report
Information
Cardiology in the Young , Volume 13 , Issue 5 , October 2003 , pp. 481 - 483
Copyright
© 2003 Cambridge University Press

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