Open AccessTurner Syndrome Genotype and Phenotype and Their Effect on Presenting Features and Timing of Diagnosis
Author(s) -
Ibrahim Al-Alwan,
Manal Mustafa Khadora,
Isam Amir,
Ghada H. Nasrat,
Aamir Omair,
Lindsay Brown,
Mohammed Al-Dubayee,
Motasim Badri
Publication year - 2014
Publication title -
international journal of health sciences
Language(s) - English
Resource type - Journals
eISSN - 1658-7774
pISSN - 1658-3639
DOI - 10.12816/0006086
Subject(s) - turner syndrome , short stature , monosomy , medicine , karyotype , x chromosome , pediatrics , odds ratio , group b , amenorrhea , gynecology , chromosome , genetics , biology , pregnancy , gene
Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis.