Management of Turner Syndrome
نویسنده
چکیده
Turner syndrome is one of the most common genetic disorders, affecting one in 2,000–2,500 live-born girls. In order to provide appropriate healthcare, a multi-disciplinary team of closely cooperating endocrinologists, gynaecologists, geneticists, cardiologists, otolaryngologists, fertility specialists, psychologists, nurse educators and social workers is needed.
منابع مشابه
Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report
Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using the karyotype test. In addition to Turner syndrome, Robertsonian (ROB) translocation t(13;14) was detected. As recommended by a genetic counse...
متن کاملDextrocardia and Hiatal Hernia in a Patient with Turner Syndrome
Turner syndrome is a sex-chromosome disorder occurring in one out of 2500 female births and characterized by growth retardation, gonadal dysgenesis and cardiovascular anomalies. The 45, XO karyotype is the most frequent type of this disease. Herein, we report on a 6-year-old girl with Turner syndrome and 45, XO karyotype presenting with short stature. She had dextrocardia and hiatal hernia. To ...
متن کاملEvaluation of the relationship between the back of the neck and the incidence of Turner syndrome in the first trimester of pregnancy
Abstract Background and Aim: Children with various anomalies are economically, emotionally charged for the family and society. The purpose of this study was to evaluate the value of Nuchal translucency (NT) in the diagnosis of Turner Syndrome in the first trimester of pregnancy. Materials and Methods: This prospective study was performed on 1522 pregnant women with gestational age of 11 to 13 w...
متن کاملComparison of classical cytogenetics versus interphase FISH in diagnosis of mosaic form of Turner syndrome
Abstract Background: Mosaic form of turner syndrome that represented by two or more cell lines in an affected individual, often has limitation for detection with classical cytogenetic methods. The present study was carried out to compare the efficiency of interphase Fluorescence In Situ Hybridisation (FISH) and cytogenetic techniques in detection of mosaic form of turner syndrome. Method...
متن کاملEffects of Karyotype Variations on Phenotype of Patients with Turner Syndrome
Background: Turner syndrome (TS) is a sporadic disorder caused by the absence of all or some parts one X-chromosome with major developmental consequences such as short stature and ovarian failure etc. The minor manifestations of TS are cubitus valgus, micrognatism, high-arched palate, short and/or webbed neck, hypothyroidism, etc. Different karyotype abnormalities may lead to different clinical...
متن کاملTurner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed tri...
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2015