A case with short stature, growth hormone deficiency and 46, XX, XQ27-qter deletion
[ X ]
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medical Sciences University of Teheran
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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. © 2017 Tehran University of Medical Sciences. All rights reserved.
Açıklama
Anahtar Kelimeler
Deletion; Gene; Growth hormone deficiency; Short stature; X chromosome
Kaynak
Acta Medica Iranica
WoS Q Değeri
Scopus Q Değeri
Q3
Cilt
55
Sayı
10
