SEX CHROMOSOMAL ABNORMALITIES: A PROSPECTIVE STUDY

本研究的长期目标是继续建立 性染色体携带者成年期的发育预后 在出生时发现的异常（SCA）， 1964年和1974年。 在这项纵向研究中，我们 记录了身体，内分泌，发育和心理 SCA儿童的表型。 语言的存在，学习， SCA儿童的神经运动障碍和 SCA青少年表明，SCA成年人有困难的风险， 并可能经历发病率增加 精神病理学 目前还没有关于CANCSCA成人队列的研究。 存在，以及没有任何新生儿性染色体筛查 过去二十年的研究表明，丹佛研究将是 第一个也可能是最后一个可以预见的研究成年人的机会， 适应这个人群。 这项建议包括调查 身体、内分泌、神经认知、职业和心理社会 42名SCA患者和32名对照组患者的特征 兄妹 这些具体目标使我们能够解决我们在报告中提出的问题。 早期的研究，并完成表型概况， 出生到成年的45，X，47，XXX，47，XXY和性染色体 嵌合核型

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.