Yazar "Ozbek, M. Nuri" seçeneğine göre listele

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    Colchicine poisoning in a very young child
    (Saudi Med J, 2006) Katar, Selahattin; Kervancioglu, Mehmet; Devecioglu, Celal; Ozbek, M. Nuri
    [Abstract Not Available]
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    Cytogenetic and clinical features of a 13 year old male with trisomy 8
    (Georg Thieme Verlag Kg, 2012) Balkan, Mahmut; Fidanboy, Mehmet; Ozmen, Cihan; Ozbek, M. Nuri; Otcu, Selcuk; Kapi, Emin; Budak, Turgay
    Trisomy 8 is a relatively rare chromosomal abnormality. The majority of cases present with the mosaic form. Regular trisomy 8 is usually lethal and frequently results in miscarriage, while those with trisomy 8 mosaicism are more likely to survive. We report clinical observations and cytogenetic studies of a 13-year-old male with regular trisomy 8 and compared with those of other known cases of trisomy 8. The most discriminating findings for this condition are skeletal anomalies, restricted articular function, and speech problems. Our results are in agreement with those of previous studies for trisomy 8.
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    Different chromosome Y abnormalities in a case with short stature
    (Georg Thieme Verlag Kg, 2012) Balkan, Mahmut; Fidanboy, Mehmet; Ozbek, M. Nuri; Alp, M. Nail; Budak, Turgay
    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.