Premium
Genetic abnormalities in Turkish women with premature ovarian failure
Author(s) -
Ceylaner Gulay,
Altinkaya Sunduz Ozlem,
Mollamahmutoglu Leyla,
Ceylaner Serdar
Publication year - 2010
Publication title -
international journal of gynecology and obstetrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.895
H-Index - 97
eISSN - 1879-3479
pISSN - 0020-7292
DOI - 10.1016/j.ijgo.2010.03.023
Subject(s) - premature ovarian failure , medicine , karyotype , genetic counseling , chromosomal translocation , abnormality , genetic testing , chromosome abnormality , gynecology , chromosomal abnormality , turkish , pediatrics , chromosome , genetics , obstetrics , biology , linguistics , philosophy , psychiatry , gene
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.