A case with double translocation and sjögren's syndrome Sjögren Sendromu Tanılı ve Çift Translokasyon Taşıyıcısı Bir Olgu


Çavdarli B., Özgen G., Kaymak A. Ö. , GÖKER B. , Liehr T., ERGÜN M. A. , ...Daha Fazla

Turkiye Klinikleri Journal of Medical Sciences, cilt.33, sa.1, ss.263-266, 2013 (SCI Expanded İndekslerine Giren Dergi) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Konu: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.5336/medsci.2011-25707
  • Dergi Adı: Turkiye Klinikleri Journal of Medical Sciences
  • Sayfa Sayıları: ss.263-266

Özet

We report an infertile patient with Sjögren's syndrome whose chromosome analysis revealed 45,XX,t(4;8)(q31.3~q32.1;q21.3),der(13;14)(q10;q10). Sjögren's syndrome is a systemic autoimmune disorder characterized by xerostomia and xerophtalmia. Although candidate genes for this condition have been suggested, no certain genetic origin has been reported. This case is unusual for carrying both reciprocal and Robertsonian translocation, having no phenotypical abnormalities other than femoral neck hypoplasia and being diagnosed with Sjögren's syndrome. We suggest that infertility might be due to abnormal segregation pattern during gametogenesis, caused by carrying double translocation. We discussed whether the cause of the Sjögren's syndrome was the disruption of a gene in one of the breakpoints 4q31.3~q32.1 or 8q21.3. © 2013 by Türkiye Klinikleri.