NOVEL DELETION ON THE SHORT ARM OF CHROMOSOME-17 IN A PATIENT WITH MULTIPLE CARDIAC ANOMALIES

We describe the novel karyotype of a 33-year-old woman with severe men tal retardation and multiple cardiac anomalies, including patent ductu s arteriosus, a ventricular septal defect, pulmonary atresia, and an o verriding aorta. Her karyotype was 46, XX, add(17)(p13). The short arm of chromosome 17 was slightly elongated owing to the deletion of the distal portion of that chromosome and the addition of extra material f rom another chromosome. Miller-Dieker syndrome is characterized by a p atent ductus arteriosus, lissencephaly, and the deletion of chromosome 17p13.3; however, as the patient's brain surface appeared normal on c omputed tomography, Miller-Dieker syndrome was excluded. The breakpoin t in her chromosome 17 was probably located distal to band 17p13.3. In fact, fluorescence in situ hybridization analysis demonstrated that b and 17p13.3 was intact. To date, genes distal to 17p13.3 have not been implicated in cardiac anomalies. This patient probably carries a nove l deletion on the short arm of chromosome 17.