J Pediatr Genet 2012; 01(04): 239-242
DOI: 10.3233/PGE-12038
Georg Thieme Verlag KG Stuttgart – New York

Different chromosome Y abnormalities in a case with short stature

Mahmut Balkan
a   Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
,
Mehmet Fidanboy
a   Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
,
M. Nuri Özbek
b   Department of Pediatrics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
,
M. Nail Alp
a   Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
,
Turgay Budak
a   Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
› Author Affiliations

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Further Information

Publication History

14 November 2011

21 March 2012

Publication Date:
27 July 2015 (online)

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.