Trisomía 22 en mosaico como causa de disgenesia ovárica asociada a un fenotipo Turner-Ullrich

We report the case of a 25-year-old woman with ovarian dysgenesis due to trisomy 22 mosaicism. Karyotype in peripheral blood showed a normal 46 XX female. Biopsy of both ovarian streaks revealed trisomy 22 mosaicism in gonads. Cultured skin fibroblasts confirmed the alteration. The patient was born to a twin delivery. Although her sister was phenotypically normal, our patient was diagnosed with Russell-Silver dwarfism in childhood. Physical examination revealed significant right-side hemiatrophy, short stature, cubitus valgus, and absence of normal menarche. These findings are compatible with Ullrich-Turner syndrome. Uniparental disomy as a cause of the trisomy was investigated but was not confirmed in the parents' blood samples. We propose a postfertilization mitotic error as the cause of the trisomy 22 mosaicism.