GENETICS OF TURNER SYNDROME--COGNITIVE/PHYSICAL ASPECTS

特纳综合症是一种人类遗传性疾病，涉及女性缺乏所有 或一条 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、肾脏和骨骼畸形。已选择 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，但整体发育迟缓 不常见。 作为一种相对常见的遗传性疾病，具有明确的表现， 特纳综合征为研究遗传因素提供了机会 影响女性身体和认知发展的因素有 特纳之间潜在的信息遗传和表型变异 具有部分 X 缺失（部分 X 单体）的综合征受试者。小心 这些不寻常受试者的临床和分子特征 代表“自然实验”可能与个体特纳综合症联系起来 特定 X 染色体区域的表型特征。类似的研究还有 唐氏综合症和其他染色体疾病的治疗正在进行中。特纳 综合征是此类表型作图研究的绝佳模型，因为 它的流行程度、特征明确的表型以及丰富的 X 染色体可用的分子资源。病症也是 由于选择性，研究认知遗传方面的模型 神经认知缺陷的本质和言语的相对保留 能力。 这项研究将检查大约 80 名部分 X 单体受试者。每个 受试者将进行彻底的临床评估和广泛的 神经认知测试以确定特定的存在或不存在 特纳综合征的表型特征。将建立细胞系并 用于分子研究以精确定义受试者的 X 缺失。 本研究的目标是定义 X 染色体的关键区域 与特纳相关的神经认知缺陷和身体特征 综合症。 X缺失的表型作图将有助于遗传 咨询并预测哪些患有特纳综合症的女孩处于高水平 学习困难的风险；这些孩子和他们的父母可能 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提供宝贵的资源 旨在识别特定特纳综合征基因的研究。 这些基因的表征将有助于深入了解 特纳综合征的病理生理学以及正常身体的过程 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.