SEX CHROMOSOMAL ABNORMALITIES: A PROSPECTIVE STUDY

性染色体异常：一项前瞻性研究

• 批准号: 3311217
• 负责人: ARTHUR ROBINSON
• 金额: $ 20.46万
• 依托单位: NATIONAL JEWISH HEALTH
• 依托单位国家: 美国
• 财政年份: 1976
• 资助国家: 美国
• 起止时间: 1976-05-01 至 1987-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/3311217
• 关键词: adolescence (12-20); aneuploidy; behavior test; biological polymorphism; child psychology; chromosome disorders; cytogenetics; developmental genetics; genetic counseling; genetic disorder diagnosis; human population genetics; human subject; karyotype; language disorders; luteinizing hormone; middle childhood (6-11); postnatal growth disorder; psychophysiology; sex chromosomes; tissue /cell culture; tissue mosaicism

The purpose of this research is to continue our study of a group of children with abnormalities of the sex chromosomes who were identified in a cytogenetic survey of 40,000 consecutive births from 1964-1974. Our long-term objective is to define the ultimate prognosis for each of these conditions--47,XXX; 47,XXY; 47,XYY; 45,X and mosaicisms of these. Data from biased samples of children and adults with these karyotypes indicate that they are at an increased risk for intellectual, emotional, social or physical problems in later life. The data from this "Family Development Study" are being analyzed by comparisons between subgroups and by using chromosomally normal siblings as controls. We have identified delayed language development as an important problem in many of the propositi, and are conducting an in-depth study in this area. The chief investigator and his associates have been receiving inquiries from all over the world as to the prognosis of fetuses identified in utero as having these karyotypes, thus stressing one significant result of these continuing studies.

这项研究的目的是继续我们对一组儿童的研究 在细胞遗传学中发现的性染色体异常 对1964-1974年连续4万名新生儿的调查。 我们的长期目标是确定每种疾病的最终预后 条件--47，XXX; 47，XXY; 47，XYY; 45，X和这些的镶嵌。 数据从 具有这些核型的儿童和成人的偏倚样本表明， 智力、情感、社交或身体方面的风险增加 以后生活中的问题。 这项“家庭发展研究”的数据正在 通过亚组之间的比较和使用染色体正常 兄弟姐妹作为对照。 我们已经确定延迟的语言发展是一种 在许多重要问题的命题，并正在进行深入的研究 在这一地区。 首席调查员和他的同事一直在接受来自所有人的询问， 关于子宫内胎儿的预后， 这些核型，从而强调了这些持续的一个重要结果， 问题研究