遺伝症候群と遺伝子治療のジャーナル
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概要

Iridocyclitis in a Female Patient with a Variant of Turner Syndrome

Sofocleous Christalena, Tsoutsou Eirini, Fafoula Olga, Maritsi Despina and Fryssira Helen

We report on a 4- years- old female patient with a karyotype 46,X,i(X)q (95%) /45,X0 (5%), with short stature, developmental delay and iridocyclitis, a rare autoimmune manifestation in variant Turner’s syndrome group. Molecular analysis allowed characterization of the isochromosome as of paternal origin and disclosed loss of heterozygosity for PAR1 SHOX region. X-inactivation studies indicate that the isochromosome is almost completely methylated and inactive.