| Sub-title | |
| Authors | C Chetcuti Ganado V Grech |
| 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: 47,XY+der(22)t(11;22)(q23.3;q11.2), the result of a maternal balanced reciprocal translocation between these two chromosomes. Our patient was dysmorphic and had coarctation of the aorta, a partial atrioventricular septal defect with common atrioventricular junction and exclusively atrial shunting, patent ductus arteriosus, supracardiac total anomalous pulmonary venous drainage, a single kidney, and tracheobronchomalacia. This patient is unusual in having extensive left-sided cardiac involvement, a feature that is very rarely found in this condition. To the best of our knowledge, these features have not previously been documented in this syndrome. |
Published in: | |
| Journal | Malta Medical Journal |
| Volume | Volume 15 (suppl) |
| Pages | - |
| Date | |
| Link to journal | |
| Key words | complex congenital cardiac disease, partial trisomy, long arms of chromosomes 11 and 22 |