Genetic abnormalities in Turkish women with premature ovarian failure

CEYLANER G., Altinkaya S. O., Mollamahmutoglu L., CEYLANER S.

International Journal of Gynecology and Obstetrics, cilt.110, sa.2, ss.122-124, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 110 Sayı: 2
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1016/j.ijgo.2010.03.023
  • Dergi Adı: International Journal of Gynecology and Obstetrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.122-124
  • Anahtar Kelimeler: Cytogenetic analysis, Genetic disorders, Premature ovarian failure, ROBERTSONIAN TRANSLOCATION, FEMALE, MUTATION
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

Objective: To identify the distribution of cytogenetic abnormalities among Turkish women with premature ovarian failure (POF). Method: A karyotype analysis was performed at the Medical Genetics Department of Zekai Tahir Burak Women's Hospital, Ankara, Turkey, for 75 women younger than 40 years found to have POF over a 5-year period. Results: There were 18 familial cases (24%), 1 of which involving an abnormality of the X chromosome [46,X,del(X)(q22)]. Sixteen patients (21.3%) had chromosomal abnormalities such as Xq and Xp deletions, translocations, and numerical aberrations; 2 had Swyer syndrome; 2 were fragile X premutation carriers; and 1 had galactosemia. Conclusion: A genetic cause of POF was identified in 39 (52%) of 75 patients. A thorough genetic evaluation of women with POF should be performed regardless of clinical features suggestive of chromosomal abnormality. © 2010 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.