A rare case in literature: Isochromosome Xq in Klinefelter syndrome

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dc.contributor.authorSimsek, Levent
dc.contributor.authorZamani, Ayse Gul
dc.contributor.authorTaskapu, Hakan Hakki
dc.contributor.authorYildirim, Mahmut Selman
dc.date.accessioned2024-02-23T14:24:01Z
dc.date.available2024-02-23T14:24:01Z
dc.date.issued2019
dc.departmentNEÜen_US
dc.description.abstractBackground: Klinefelter syndrome(KS), affecting 1 in 500-1,000 newborn males, is the most common sex chromosome aneuploidy among males with primary hypogonadism. Isochromosome Xq on the other hand is a rare variant of Klinefelter syndrome, accounting approximately 0.3% of all KS and associated with normal height and androgenisation compared to classical KS. Here, we present a case of isochromosome Xq variant of KS with similar clinical and cytogenetic findings with the few cases reported before. Materials and Methods: A 25-year-old male patient referred to our clinic with complaint of infertility. He is the son of a consanguineous couple who are first cousins and there was no family history of reproductive difficulty. In physical examination synophrys, prominent ear and small testicles noted. The patient's spermiogram showed azoospermia and scrotal USG revealed testicular atrophy. Results: Karyotype analysis using G-banding resulted as 47, X, i(X)(q10), Y, and STR analysis showed no deletion in AZF and SRY loci of interest. Conclusion: Although several isochromosome Xq variant of KS cases can be found in literature, it is our duty to emphasise the importance of karyotyping for patients with reproductive difficulty who may not have all features of classical Klinefelter syndrome.en_US
dc.identifier.doi10.1111/and.13253
dc.identifier.issn0303-4569
dc.identifier.issn1439-0272
dc.identifier.issue5en_US
dc.identifier.pmid30746732en_US
dc.identifier.scopus2-s2.0-85061346619en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1111/and.13253
dc.identifier.urihttps://hdl.handle.net/20.500.12452/13781
dc.identifier.volume51en_US
dc.identifier.wosWOS:000471975000018en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofAndrologiaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject47,X,I(X)(Q10),Yen_US
dc.subjectInfertilityen_US
dc.subjectIsochromosome Xqen_US
dc.subjectKlinefelter Syndromeen_US
dc.titleA rare case in literature: Isochromosome Xq in Klinefelter syndromeen_US
dc.typeArticleen_US

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