alexa Iridocyclitis in a Female Patient with a Variant of Turner Syndrome | OMICS International
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Case Report

Iridocyclitis in a Female Patient with a Variant of Turner Syndrome

Sofocleous Christalena1,2, Tsoutsou Eirini1, Fafoula Olga3, Maritsi Despina4 and Fryssira Helen1*

1Medical Genetics, National and Kapodistrian University of Athens, Medical School, Choremio Research Laboratory,” Aghia Sophia” Children’s Hospital, Athens, Greece

2Research Institute for the Study of Genetic and Malignant Diseases of Childhood, National and Kapodistrian University of Athens, Choremio Research Laboratory,” Aghia Sophia” Children’s Hospital, Athens, Greece

3Endocrinology Department, Children’s Hospital of Pentelis, Athens, Greece

4Reumatology Department, “Aglaias Kyriakou” Children’s Hospital, Athens, Greece

*Corresponding Author:
Fryssira Helen
Associate Professor in Clinical Genetics, Medical Genetics
Choremio Research Laboratory, “Aghia Sophia” Children’s Hospital
Thivon and Levadias, Goudi, Athens, 11527, Greece
Fax: +302107795553
E-mail: [email protected]

Received date: August 22, 2013; Accepted date:November 11, 2013; Published date: November 21, 2013

Citation: Christalena S, Eirini T, Olga F, Despina M, Helen F (2013) Iridocyclitis in a Female Patient with a Variant of Turner Syndrome. J Genet Syndr Gene Ther 4:196. doi:

Copyright: © 2013 Christalena S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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’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.

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