Different chromosome Y abnormalities in a case with short stature

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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

Künye