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Title: | Translocation Y;21 in an infertile male patient having 45, X karyotype: Case report | Other Titles: | 45, X karyotipe sahip İnfertil erkek hastada Y;21 translokasyonu | Authors: | Semerci, Cavidan Nur Eser, Metin Tufan, Lale Satıroğlu Kalkan, Tarkan Çetin, Gökhan Ozan Öztürk, O. Bagcı, Gülseren |
Keywords: | Azoospermia Genetic Infertility Translocation |
Publisher: | Turkiye Klinikleri | Abstract: | A 30-year-old male patient referred to our clinic for unraveling the underlying etiology of the azoospermia. He had no unusual medical history. At physical examination, obesity, short neck and gynecomastia were noted. All hormone levels were normal except estradiol which was 2-fold higher than the upper limit. Having azoospermia in the spermiogram, scrotal ultrasonography was normal. Cytogenetic analysis and fluorescence in situ hybridization were performed subsequently, 45,X,add(21)(p10) and 45,X,add(21)(p10).ish der(Y;21) (q12;p10) were found, respectively. On C-banding, dicentric staining of translocated chromosome was observed. NOR banding was negative. Molecular genetics studies using multiplex polymerase chain reaction revealed the presence of Y chromosome sequences at SRY, AZFa, AZFb, AZFc regions. © 2012 by Türkiye Klinikleri. | URI: | https://hdl.handle.net/11499/8749 https://doi.org/10.5336/medsci.2011-23453 |
ISSN: | 1300-0292 |
Appears in Collections: | Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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10.5336 medsci.2011-23453.pdf | 206.53 kB | Adobe PDF | View/Open |
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