Background. We would like to emphasize some genetic causes of female infertility. Methods. The retrospective study included all women referred to Department of Obstetrics and Gynaecology, Division of Medical Genetics, in the period between 1994 and 2008 due to infertility. Cytogenetic studies and DNA analysis were carried out. Results. 254 women were included in genetic counselling due to irregular menstrual cycle or premature ovarian failure. Chromosome abnormalities were found in 62 (24.4 %) women, 14 women had various gene mutations. The most common abnormality was X chromosome mosaicism. Conclusions. The recognition of risk factors is the first step in the search of genetic causes of female infertility, followed by genetic counselling and diagnostic procedures.