Cytogenetic Analysis of Children with Ambiguous Genitalia in Mosul

The present study aim to investigate the causes and characteristics of ambiguous genitalia in newborn who were referred to cytogenetic laboratory. Cytogenetic analysis was performed for each case. All cases were analyzed by chromosomal study using GTG karyotype. All patients after cytogenetic analysis revealed 46, XX and 46, XY Karyotype. One individual carry a Y chromosome but phenotypically female and one case have a female karyotype but are phenotypically male. The cytogenetic analysis of children with suspected chromosomal aberrations is important to uncover the contribution of chromosomal disorder in genesis of sexual ambiguity and congenital malformation in children and prevent further potentially unpleasant investigation being undertaken