CYTOGENETIC AND MOLECULAR STUDY ON AMBIGUITY PATIENTS

Fifteen cases of patients with ambiguity have been investigated in this study. The patients grouped into two groups according to their phenotype of the external genitalia. Group-1 included 2 patients with male genitalia plus unclear structures while group-2 which includes 13 patients with a complex genitalia. Patients age were ranged from 1 month to 18 years. Cytogenetic and molecular analysis were performed for each case. Two 46,XY karyotypes were revealed in patients of Group-1. Patients with a complex external genitalia (Group-2) showed four types of karyotyping, seven of them were 46,XY, three cases were 46,XX and three with mosaicism (46,XX/46,XY). Also the cytogenetic analysis of all patients showed normal sex chromosomes without any type of abnormalities.The molecular analysis revealed that 14 patients were identical to their cytogenetic analysis. On the other hand, one patient (no. 4) from group -2 which was identified as female in the cytogenetic analysis showed a positive to SRY gene. Eventually the ambiguity is a complex sexual disorder caused by different genetic errors.