Analysis of the SRY gene in a girl with 45,X/46,XY genotype.
Analysis of the SRY gene in a girl with 45,X/46,XY genotype: We present a Turner syndrome patient with a 45, X/46, XY mosaicism. A seven-year-old patient was admitted to our laboratory for evaluation of Turner Syndrome. On physical examination, short stature, a webbed neck, a broad chest with widely spaced nipples, syndactyly on toes, horse shoe kidney and typical findings of aortic coarctation were present. The chromosome karyotype of the patient was 45 X/46 XY. Molecular analysis of the blood lymphocytes confirmed the presence of the SRY gene of the patient. We report here the clinical and cytogenetic findings in a patient with an unusual sex chromosome mosaicism.
University of Mersin, Faculty of Medicine, Department of Medical Biology and Genetics, Mersin, Turkey.
E
E
Akbas
F
F
Soylemez
O
O
Hallioglu
S
S
Polat
G
G
Turkoz
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002648:Child; D041322:Chromosomes, Human, Y / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D009030:Mosaicism; D009630:Nondisjunction, Genetic; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D051876:Sex-Determining Region Y Protein / Q000235:genetics*; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*
C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein