Introduction: Sex chromosomes Abnormality (SCAs), formed by numerical or structural alteration in X and Y chromosomes, are the most frequently CA encountered at both prenatal diagnosis and at birth. Two completely known syndrome related to SCA are Turner’s (TS) and klinefelter’s syndrome (KS) which are of important causes of abnormal development or infertility or both. This study describes cytogenetic findings of cases suspected with CA reffered to genetic laboratory of ACECR focusing on sex chromosome abnormality.
Method: Of available ducuments, 4151 cases with karyotype studed. sex chromosome aneuploidy cases such as Turners, Klinfelter’s syndrome and sex ambiguinity were counted. Karyotypes were prepared according to G-Banding method.
Result: Out of 234 (7.4%) cases with chromosome abnormal karyotype, 122 cases showed SCA including 45% turner’s syndrome, 44% Klinfelters syndrome and the remaining other sex chromosome abnormalities. The frequency of classic and mosaic form of turner’s syndrome was 36% and 66%; it was 66% and 34% for Klinfelter’s syndrome, respectively.
Discussion and Conclusion: The findings of this survey are similar to that observed in other genetic centers of Iran. And other countries. However, there were some differences in the results of some other surveys. This could result from different cytogenetic methods used in various labs and lack of coordination in the criteria for cytogenetic study. Cytogenetic study and the finding obtained provide an important guide to counselors, physicians and families with these disorders.