[45, X/47, XY, +13 mosaicism in a 19-year-old girl].
The 45, X/47, XY, +13 mosaicism was observed in a 19-year-old mentally deficient girl who was examined because of primary amenorrhea. Certain clinical features were reminiscent of Turner's syndrome, while no features of trisomy 13 were present. The study of blood groups, HLA genotypes, and cytogenetic markers provided no evidence of chimerism.
D000293:Adolescent; D000568:Amenorrhea / Q000235:genetics; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009030:Mosaicism; D014314:Trisomy; D014424:Turner Syndrome / Q000175:diagnosis
Mosaique 45, X/47, XY, +13, chez une fille agée de 19 ans