Turner syndrome and 45,X/47,XXX mosaicism.
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.
Akbas
E
E
University of Mersin, Faculty of Medicine, Department of Medical Biology and Genetics, Mezitli, Mersin, Turkey.
Mutluhan
H
H
Savasoglu
K
K
Soylemez
F
F
Ozturk
I
I
Yazici
G
G
D000293:Adolescent; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D005838:Genotype; D006060:Gonadal Dysgenesis, Mixed / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006400:Hematocrit; D006452:Hemoglobinometry; D006801:Humans; D007621:Karyotyping; D008595:Menorrhagia / Q000097:blood / Q000235:genetics; D009030:Mosaicism; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics*