A case with short stature, growth hormone deficiency and 46, XX, XQ27-qter deletion

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dc.contributor.authorYıldırım, Şule
dc.contributor.authorTopaloğlu, Naci
dc.contributor.authorTekin, Mustafa
dc.contributor.authorSılan, Fatma
dc.date.accessioned2025-01-27T19:02:51Z
dc.date.available2025-01-27T19:02:51Z
dc.date.issued2017
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractWe report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis 46, XX, Xq27-qter deletion was determined. The deletion of terminal region of chromosome 27 is most commonly being detected during the evaluation of infertility, premature ovarian insufficiency or in screening for fragile X carrier status. To our knowledge, this is the first reported case with 46, XX, Xq27-qter deletion and growth hormone deficiency. Furthermore, this case might facilitate future search for candidate genes involved in growth hormone deficiency. © 2017 Tehran University of Medical Sciences. All rights reserved.
dc.identifier.endpage663
dc.identifier.issn0044-6025
dc.identifier.issue10
dc.identifier.scopus2-s2.0-85037033403
dc.identifier.scopusqualityQ3
dc.identifier.startpage661
dc.identifier.urihttps://hdl.handle.net/20.500.12428/13695
dc.identifier.volume55
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherMedical Sciences University of Teheran
dc.relation.ispartofActa Medica Iranica
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_Scopus_20250125
dc.subjectDeletion; Gene; Growth hormone deficiency; Short stature; X chromosome
dc.titleA case with short stature, growth hormone deficiency and 46, XX, XQ27-qter deletion
dc.typeArticle

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