SEX CHROMOSOMAL ABNORMALITIES: A PROSPECTIVE STUDY

这项研究的长期目标是继续建立 性染色体携带者成年后的发育预后 出生时发现的异常(SCA)以未经选择的方式在 1964年和1974年。在这个纵向研究的过程中，我们有 记录了生理、内分泌、发育和心理 SCA儿童的表型。语言的存在、学习和 SCA儿童的神经运动障碍和心理社会功能障碍 SCA青少年提示SCA成年人有学习困难的风险 社会和职业适应，并可能经历发病率增加 精神变态的专家。没有关于未选择的SCA成人队列的研究在 是否存在，以及没有任何新生儿性染色体筛查 过去二十年的项目表明，丹佛的研究将是 第一次也可能是最后一次可以预见的学习成人的机会 在这个种群中的适应。这项提案包括调查 生理、内分泌、神经认知、职业和心理社会 42例SCA患者和32例对照组的特点 兄弟姐妹。具体的目标使我们能够解决在我们的 对这一群体的早期研究，并完成来自 45，X，47，XXX，47，XXY和性染色体的成年出生 马赛克核型。

The long-term objectives of this study are to continue to establish the developmental prognosis into adulthood of individuals with sex chromosome abnormalities (SCA) identified at birth in an unselected fashion between 1964 and 1974. In the course of this longitudinal study, we have documented the physical, endocrine, developmental, and psychological phenotypes of SCA children. The presence of language, learning, and neuromotor impairment in SCA children and of psychosocial dysfunction in SCA adolescents suggests that SCA adults are at risk for difficulty in social and vocational adaptation and may experience increased incidence of psychopathology. No studies of an unselected SCA adult cohort are in existence, and the absence of any newborn sex chromosome screening programs in the past two decades indicates that the Denver Study will be the first and possibly last foreseeable opportunity to study adult adaptation in this population. This proposal includes investigations of physical, endocrine, neurocognitive, vocational, and psychosocial characteristics of 42 SCA propositi and a control group that includes 32 siblings. The specific aims allow us to address questions raised in our earlier studies of this group and to complete the phenotypic profile from birth into adulthood of the 45,X, 47,XXX, 47,XXY, and sex chromosome mosaic karyotypes.