Case Report
Mosaic Isodicentric Y Chromosome in a Patient with Mixed Gonadal Dysgenesis
1Department of Medical Genetics, Başkent University Faculty of Medicine, Ankara, Turkey
2Department of Pediatric, Çukurova University Faculty of Medicine, Adana, Turkey
2Department of Pediatric, Çukurova University Faculty of Medicine, Adana, Turkey
J Clin Pract Res 2014; 36(4): 177-180 DOI: 10.5152/etd.2014.5663
Abstract
Here, we report a male with mixed gonadal dysgenesis and a mosaic karyotype, 45,X[49]/47,X,idic(Y) (q11.2)x2[4]/46,X,idic(Y) (q11.2)[47]. We used fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to determine the structural rearrangement and genetic content of the Y chromosome. Our findings emphasize the importance of the use of a combination of cytogenetic and molecular genetics techniques during characterization of a patient with a derivative Y chromosome before any general conclusions can be reached concerning the relative effects of the Y chromosome abnormality and mosaicism on sexual differentiation.
Keywords: Isodicentric Y, mixed gonadal dysgenesis, mosaicism, SRY