A Rare Mosaic Karyotype of 45,X/46,X,psu idic(Y)(p11.32)/46, XY with SHOX Haploinsufficiency, External Male Genitalia, and Short Stature

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dc.authoridYuksel, Sengul/0000-0002-7190-431X
dc.authoridKorkmaz Sezer, Selcen/0000-0001-9479-3176
dc.authoridKOÇ, AHMET/0000-0003-3484-2137
dc.authoridKayhan, Zeynep/0000-0003-0579-1115
dc.authoridEkici, Cemal/0000-0003-1872-3138
dc.authorwosidYuksel, Sengul/ABI-2182-2020
dc.authorwosidKorkmaz Sezer, Selcen/ABU-1678-2022
dc.authorwosidEsener, Zeynep/ISB-9416-2023
dc.authorwosidKOÇ, AHMET/ABI-3322-2020
dc.authorwosidKayhan, Zeynep/AAJ-4623-2021
dc.contributor.authorEkici, Cemal
dc.contributor.authorEsener, Zeynep
dc.contributor.authorKorkmaz, Selcen
dc.contributor.authorSalturk, Nihal
dc.contributor.authorYuksel, Sengul
dc.contributor.authorKoc, Ahmet
dc.date.accessioned2024-08-04T20:45:35Z
dc.date.available2024-08-04T20:45:35Z
dc.date.issued2019
dc.departmentİnönü Üniversitesien_US
dc.description.abstractIn this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and his parents and showed the patient's karyotype mos 45, X[20]/46, X, idic(Y)(p11.32)[29]/46, XY[1]. The karyotypes of the parents were normal. Subsequently, specific FISH probes were hybridized to the related regions of the sex-determining region Y (SRY), centromere X/Y (CEP X/Y), and short stature homeobox (SHOX) genes. Simultaneous SNP array-CGH was conducted. As to our knowledge, we present the first patient with mosaic isodicentric Y chromosome with 3 different cell lines and normal male external genitalia. Our results suggest that it would be beneficial to study cytogenetic and molecular cytogenetic methods together for better diagnostic accuracy and treatment. (C) 2018 S. Karger AG, Baselen_US
dc.identifier.doi10.1159/000495201
dc.identifier.endpage46en_US
dc.identifier.issn1661-5425
dc.identifier.issn1661-5433
dc.identifier.issue1en_US
dc.identifier.pmid30504706en_US
dc.identifier.scopus2-s2.0-85058192521en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage41en_US
dc.identifier.urihttps://doi.org/10.1159/000495201
dc.identifier.urihttps://hdl.handle.net/11616/98569
dc.identifier.volume13en_US
dc.identifier.wosWOS:000463535800007en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofSexual Developmenten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectIsodicentric Yen_US
dc.subjectMosaicismen_US
dc.subjectSHOXen_US
dc.subjectSRYen_US
dc.titleA Rare Mosaic Karyotype of 45,X/46,X,psu idic(Y)(p11.32)/46, XY with SHOX Haploinsufficiency, External Male Genitalia, and Short Statureen_US
dc.typeArticleen_US

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