title: Turner syndrome and 45,X/47,XXX mosaicism.
abstract: 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.
authors: University of Mersin, Faculty of Medicine, Department of Medical Biology and Genetics, Mezitli, Mersin, Turkey.
authors: E
authors: E
authors: Akbas
authors: H
authors: H
authors: Mutluhan
authors: K
authors: K
authors: Savasoglu
authors: F
authors: F
authors: Soylemez
authors: I
authors: I
authors: Ozturk
authors: G
authors: G
authors: Yazici
mesh_terms: 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*