Complex congenital cardiac disease in a patient with partial trisomy for the long arms of chromosomes 11 and 22.
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.
Chetcuti-Ganado
Claudia
C
Paediatric Department, St Luke's Hospital, Guardamangia, Malta.
Grech
Victor
V
D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy