Affiliations: Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey | Department of Pediatrics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
Note:  Corresponding author: Mahmut Balkan, Dicle University Faculty of Medicine, Department of Medical Biology and Genetics, 21280, Diyarbakır, Turkey. Tel.: +90 412 2488001; Fax: +90 412 2488440; E-mail: [email protected]
Abstract: We report a case with different chromosome Y abnormalities. Case was an 11-year-old boy, who was diagnosed with short stature, referred to laboratory of human medical genetics laboratory for genetic evaluation. Chromosomal analysis of the case was carried out on peripheral blood lymphocyte culture. Classic cytogenetic analysis (G and C banding) was confirmed by using fluorescence in situ hybridization analysis (FISH) technique. Cytogenetic and FISH analysis showed a mosaic 46,X,i(Yq)/45,X/47,X,i(Yq)x2/47,XYY karyotype. Case, which was found interesting due to its rarity, is discussed with its clinical features and cytogenetic results, in the light of relevant source information. This case underlines the importance of karyotyping patients with unexplained short stature. This clinical report also will be helpful in defining the phenotypic range associated with these karyotypes.
Keywords: Y chromosome, short stature, mosaicism, FISH