Tehran University of Medical Sciences Acta Medica Iranica 0044-6025 55 10 2017 12 02 661 663 EN Şule Yıldırım Department of Pediatrics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey. Naci Topaloğlu Department of Pediatrics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey. Mustafa Tekin Department of Pediatrics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey. Fatma Sılan Department of Medical Genetics, School of Medicine, Çanakkale Onsekiz Mart University, Çanakkale, Turkey. 2017 09 16 2017 09 24 We 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. https://acta.tums.ac.ir/index.php/acta/article/view/6714 https://acta.tums.ac.ir/index.php/acta/article/download/6714/5005