Title: Iridocyclitis in a Female Patient with a Variant of Turner Syndrome
Abstract: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’...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.Read More
Publication Year: 2013
Publication Date: 2013-01-01
Language: en
Type: article
Indexed In: ['crossref']
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Cited By Count: 3
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