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 mental retardation and multiple cardiac anomalies, including patent ductus arteriosus, a ventricular septal defect, pulmonary atresia, and an overriding 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 from another chromosome. Miller-Dieker syndrome is characterized by a patent ductus arteriosus, lissencephaly, and the deletion of chromosome 17p13.3; however, as the patient's brain surface appeared normal on computed tomography, Miller-Dieker syndrome was excluded. The breakpoint in her chromosome 17 was probably located distal to band 17p13.3. In fact, fluorescence in situ hybridization analysis demonstrated that band 17p13.3 was intact. To date, genes distal to 17p13.3 have not been implicated in cardiac anomalies. This patient probably carries a novel deletion on the short arm of chromosome 17.