40 XO/49 XYYYY mosaicism in a male with stigmata of Turner's syndrome.
A male subject with Turner-like stigmata and chromosomic constitution 45,XO (97.5%) and 49,XYYYY (1.1%) is reported. The findings of a low percentage line bearing Y chromosome in a patient with clinical features similar to those described for XO males, would support the hypothesis that masculinization in certain individuals with 45,XO karyotype may be due to an undetected mosaicism.
D000293:Adolescent; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics*