Yıldırım, ŞuleTopaloğlu, NaciTekin, MustafaSılan, Fatma2025-01-272025-01-2720170044-6025https://hdl.handle.net/20.500.12428/13695We 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.eninfo:eu-repo/semantics/closedAccessDeletion; Gene; Growth hormone deficiency; Short stature; X chromosomeArticle55106616632-s2.0-85037033403Q3