Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
9334439 | Progresos de Obstetricia y Ginecología | 2005 | 6 Pages |
Abstract
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.
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Authors
M.J. Carazo, I. López-Expósito, G. Glóver, D.E. del Carpio,