A Case of 48, XXX, +18 Double Trisomy |
| |
| Authors: | Ikuko Imai MD Satoshi Shimao MD Yoshifumi Suzuki MD Toshio Okada MD |
| |
| Institution: | Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University |
| |
| Abstract: | We report a case of double trisomy, 48, XXX, + 18 in a newborn female who had low set ears, prominent occiput, receding chin, overlapping fingers, structural heart disease and other malformations. These deformities are similar to the characteristic manifestations of trisomy 18 syndrome. She died on the 10th day. Autopsy revealed VSD, ASD, PDA, coarctation of the aorta, Meckel's diverticulum and cerebellar hypoplasia. Our case showed unilateral anomalies on the right side. These may help to suggest the diagnosis of double trisomy. |
| |
| Keywords: | Malformation Trisomy 18 XXX Double trisomy |
|
|
