Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

The phenotypic variability observed in DSD patients depends on many factors including the presence of SRY gene, the structural rearrangement and the presence of chromosomal mosaicism, especially 45, X cell line. The phenotypic sex strongly depends on the percentage of Y chromosome and 45, X cells in the developing gonads. The aim of work was to detect sex chromosomal mosaicism in gonads and to elucidate correlation between phenotype and karyotype of patients. We reported on ten patients with variable presentations of disorders of sex development (DSD) including ambiguous genitalia, primary amenorrhea and short stature. Conventional cytogenetics studies and fluorescence in situ hybridization (FISH) on peripheral blood and gonadal tissue was performed. Non mosaic chromosomal constitution in peripheral blood of five patients was detected, and five patients exhibited mosaic cell pattern associated with different types of sex chromosomal abnormalities including 45,X, isodicentric Y chromosome, X;Y translocation

Issued also as CD