Different chromosome Y abnormalities in a case with short stature
[ X ]
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Georg Thieme Verlag Kg
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Y Chromosome, Short Stature, Mosaicism, Fish
Kaynak
Journal of Pediatric Genetics
WoS Q Değeri
N/A
Scopus Q Değeri
N/A
Cilt
1
Sayı
4
