The evaluation of phenomenons which indicate primer amenore and ambiguous genitalia by cytogenetic and molecular cytogenetic techniques

THE EVALUATION OF PHENOMENONS WHICH INDICATE PRIMERAMENORE AND AMBIGUOUS GENITALIA BY CYTOGENETIC ANDMOLECULAR CYTOGENETIC TECHNIGUESRabia AKELABSTRACTThe union between chromosomal and gonodal fenotipic sex is considered as sextransformation. SRY gene is localised in the pseudoautosomal regions of the short arm of Ychromosome. It has shown that the deletions or translocations of the gene causes ambiguousgenitalia and Primary Amenorrhoea seen in human.This study, ıt has been aimed at finding the rate of the different chromosomalanomalies in these patients by determining the chromosomal anomalies which appear withprimary amenorrhoea and sex indefiniteness. It takes an important position to find thekaryotype in those who are diagnosed as sex indefinitenes by the cytogenetics method andalong with this event, to determine the existence of the SRY gene in the diagnosis of thesepatients.In this study 87 patients have been analyzed this are 62 Primary Amenorrhoea, 10ambiguous genitalia, 8 Turner syndrome, and 7 Hypogonadotropic hypogonadism. In 87patientsconventional cytogenetics, molecular cytogenetics and molecular genetics studiesshowed 9 (12. 86%) abnormal karyotypes. It has been done FISH, PZR was studied on totaly62 Primary Amenorrhoea patients and on 10 ambiguous genitalia patients by using SRYlockus spesific and centromeric dual probe. t has been observed positive SRY in 2 patientswith ADS.Key words: Primary Amenorrhoea, ambiguous genitalia, interfaz- FISH, SRY,