title: Genetic abnormalities in Turkish women with premature ovarian failure.
abstract: OBJECTIVE
  To identify the distribution of cytogenetic abnormalities among Turkish women with premature ovarian failure (POF).
  
  
  METHODS
  A karyotype analysis was performed at the Medical Genetics Department of Zekai Tahir Burak Women's Hospital, Ankara, Turkey, for 75 women younger than 40years 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Intergen Genetics Center, Ankara, Turkey. gulayceylaner@intergen.com.tr
authors.forename: Gulay
authors.initials: G
authors.lastname: Ceylaner
authors.forename: Sunduz Ozlem
authors.initials: SO
authors.lastname: Altinkaya
authors.forename: Leyla
authors.initials: L
authors.lastname: Mollamahmutoglu
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D015994:Incidence; D016649:Primary Ovarian Insufficiency / Q000453:epidemiology* / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000706:statistics & numerical data*; D014421:Turkey / Q000453:epidemiology