Mosaic 45,X/47,XY,+18
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 36 (3) , 351-353
- https://doi.org/10.1007/bf00446288
Abstract
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
This publication has 1 reference indexed in Scilit:
- Turner Phenotype: Mosaic 45,X/47,XY,+18Journal of Medical Genetics, 1974