Iridocyclitis in a Female Patient with a Variant of Turner SyndromeSofocleous Christalena1,2, Tsoutsou Eirini1, Fafoula Olga3, Maritsi Despina4 and Fryssira Helen1*
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
- *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
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.
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.