Turner's syndrome is a genetic disorder that affects only females. Turner syndrome is caused by a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually only have 45. This condition occurs in about 1 out in 2,500 female live births worldwide (but it is much more common among miscarriages and s...

OBJECTIVE To present the main results of the literature on genetic polymorphisms in Turner Syndrome and their association with the clinical signs and the etiology of this chromosomal disorder. DATA SOURCE The review was conducted in the PubMed database without any time limit, using the terms Turner syndrome and genetic polymorphism. A total of 116 articles were found, and based on the establi...

Turner syndrome is a genetic disorder that results from an abnormal or missing X chromosome in females and is typically associated with impairments in visuospatial, but not verbal, information processing. These visuospatial processing impairments may be exacerbated with increased task demands, such as those engaged during working memory (WM). While previous studies have examined spatial WM func...

BACKGROUND Girls and women with Turner syndrome are at risk for aortic dissection and rupture. However, the size of the aorta and the clinical characteristics among those with Turner syndrome and dissection have received little attention. METHODS AND RESULTS We obtained medical records from 20 individuals who voluntarily participated in the International Turner Syndrome Aortic Dissection Regi...

INTRODUCTION Reports on cases of epilepsy in Turner syndrome are rare and most of them have cortical developmental malformations. We report the case of a Taiwanese patient with mosaic Turner syndrome with generalized tonic-clonic epilepsy and asymmetrical lateral ventricles but no apparent cortical anomaly. CASE PRESENTATION A 49-year-old Taiwanese woman without family history presented with ...

Social skills impairment in children with Turner or fragile X syndrome has been documented using parental reports. Anxiety, shyness, and difficulty understanding social cues have been reported for females with Turner syndrome; whereas social withdrawal, avoidance of social interactions, and anxiety are often reported for females with fragile X syndrome. Social interaction anxiety in these two p...

Objective: To analyse the structural and functional abnormalities in the large arteries in women with the Turner syndrome. Methods: Aortic stiffness (assessed by means of the carotid femoral pulse wave velocity), level of amplification of the carotid pressure wave (by applanation tonometry), and carotid remodelling (by high resolution ultrasound) were studied in women with the Turner syndrome. ...

One of 170 patients with karyotype-proven Turner syndrome from our institution has had pseudotumour cerebri. This patient and one previous report suggest that patients with Turner syndrome may be predisposed to increased intracranial pressure. Fourteen patients with pseudotumour cerebri were ascertained from hospital records; karyotypes of four were obtained and were normal. Karyotyping may be ...