GENETICS OF TURNER SYNDROME--COGNITIVE/PHYSICAL ASPECTS

特纳综合征是一种人类遗传性疾病，涉及女性， 或者是X染色体的一部分。主要特征是身材矮小， 不孕症和解剖异常，包括蹼颈， 先天性心脏病以及肾脏和骨骼畸形。选择 神经认知缺陷，包括视觉空间能力受损， 也是特纳综合征的特征，但总体发育迟缓， 少见. 作为一种具有明确表现的相对常见的遗传性疾病， 特纳综合征提供了研究遗传因素的机会 影响女性身体和认知发展的因素 特纳之间潜在的信息遗传和表型变异 X染色体部分缺失（X染色体部分单体性）综合征患者。小心 这些不寻常的受试者的临床和分子特征， 代表“自然实验”可能联系个人特纳综合症 表型特征到特定的X染色体区域。类似的研究还有 唐氏综合症和其他染色体疾病的研究进展。特纳 综合征是这种表型定位研究的极好模型， 它的流行，良好的特征表型，和丰富的 X染色体的分子资源。这种紊乱也是 一个研究认知遗传方面的模型，因为选择性的 神经认知缺陷的性质和语言的相对保留 能力. 本研究将检查约80名部分X单体受试者。每个 受试者将接受全面的临床评估和广泛的 神经认知测试，以确定是否存在特定的 特纳综合征的表型特征。将建立细胞系， 用于分子研究，以精确定义受试者的X缺失。 这项研究的目的是确定X染色体的关键区域 神经认知缺陷和与特纳有关的身体特征 综合征X缺失的表型定位将有助于遗传学研究。 咨询和预测哪些女孩患有特纳综合征是在高 学习困难的风险;这些孩子和他们的父母可能会 受益于额外的社会、心理和教育支持。的 细胞系的收集也将为未来的研究提供宝贵的资源。 研究旨在确定特定的特纳综合征基因。 对这些基因的表征将有助于深入了解 Turner综合征的病理生理学以及正常生理过程 和认知发展。

Turner syndrome is a human genetic disorder involving females who lack all or part of one X chromosome. The principle features are short stature, infertility, and anatomic abnormalities that include webbed neck, congenital heart disease, and renal and skeletal malformations. Selected neurocognitive deficits, including impaired visual-spatial abilities, are also characteristic of Turner syndrome, but global developmental delay is uncommon. As a relatively common genetic disorder with well-defined manifestations, Turner syndrome presents the opportunity to investigate genetic factors that influence female physical and cognitive development There is potentially informative genetic and phenotypic variation among Turner syndrome subjects with partial X deletions (partial monosomy X). Careful clinical and molecular characterization of these unusual subjects who represent "experiments of nature" could link individual Turner syndrome phenotypic features to specific X chromosome regions. Similar studies are in progress for Down syndrome and other chromosome disorders. Turner syndrome is an excellent model for such phenotype mapping studies because of its prevalence, the well-characterized phenotype, and the wealth of molecular resources available for the X chromosome. The disorder is also a model for studying genetic aspects of cognition because of the selective nature of neurocognitive deficits and the relative sparing of verbal abilities. This study will examine approximately 80 partial monosomy X subjects. Each subject will have a thorough clinical evaluation and extensive neurocognitive testing to determine the presence or absence of specific Turner syndrome phenotypic features. Cell lines will be established and used for molecular studies to precisely define the subjects' X deletions. The goal of this study is to define critical regions of the X chromosome for neurocognitive deficits and physical features associated with Turner syndrome. Phenotype mapping of X deletions will be helpful for genetic counseling and for predicting which girls with Turner syndrome are at high risk for learning difficulties; these children and their parents might benefit from extra social, psychological, and educational support. The collection of cell lines will also provide a valuable resource for future studies aimed at identifying specific Turner syndrome genes. Characterization of these genes would provide insight into the pathophysiology of Turner syndrome as well as processes of normal physical and cognitive development.