نتایج جستجو برای: turner
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Global descriptors of the cognitive phenotype of Turner syndrome are well established and are thus commonly referred to. For example, Turner syndrome is a proposed etiology of the nonverbal learning disability - because of reported relative strengths in verbal skills, and relatively weaker nonverbal skills - particularly in arithmetic, select visuospatial skills, and processing speed. This prof...
Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 yea...
Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome. Turner syndrome effects 1 in every 2000 live births. Short stature is a cardinal feature of Turner Syndrome and the standard treatment is recombinant human growth hormone. When growth hormone is started at an early age a normal adult height can be achieved. With delayed diagnosis youn...
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 Regist...
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...
INTRODUCTION In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disea...
gilles fauconnier and mark turner have considered the issue of conceptual metaphor as a special case of more general and comprehensive matter. this vast matter is the analysis of mind system mechanism when it exposes to conceptual domains. to describe such a process, fauconnier and turner use the term of mental or conceptual space. they believe that in order to understand much of human thought ...
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...
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