Mosaic 45,X/47,XY,+18 |
| |
| Authors: | Serville Françoise Fontan D. Laurent Colette Cazauran J. M. Verger P. |
| |
| Affiliation: | (1) Centre de Transfusion, Bordeaux, France;(2) Hôpital des Enfants, Bordeaux, France;(3) Institut Pasteur, Lyon, France |
| |
| Abstract: | ![]()
Summary A poorly developed female infant with buphthalmia, Turner phenotype, and mental retardation is described. Blood culture revealed a 45,X/47,XY,+18 chromosomal mosaicism; fibroblast culture showed only 45,X cells. The baby was dead at 11 months. Post mortem examination exhibited an ovarian agenesis and a calcified aortic stenosis. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
