Turner syndrome and 45,X/47,XXX mosaicism
Akbas, E.; Mutluhan, H.; Savasoglu, K.; Soylemez, F.; Ozturk, I.; Yazici, G.
Genetic Counseling 20(2): 141-146
2009
ISSN/ISBN: 1015-8146 PMID: 19650411 Document Number: 629910
The occurrence of double aneuploidy is a relatively rare phenomenon. We report on a 17-year-old woman with short stature, minimal pubic and axillar hair and short hands. In cultured lymphocyte a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for X chromosome and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. To our knowledge, this is the first case of mosaic 45,X/47,XXX in Turkey.