PERICENTRIC INVERSION/RECOMBINANT CHROMOSOME 8 STUDY

已有31人被确认携带有重组的 8号染色体(REC 8)次级于亲本的着丝粒周围倒位 8号染色体(Inv 8)。在所有情况下，Rec8都与 高度特异的表型，包括发育迟缓。所有人都有 REC 8或INV 8都有相同的断点，并且都是西班牙裔 后裔，祖先来自新墨西哥州北部/科罗拉多州南部。 由于这种共同的遗传和inv 8染色体的存在 每个拥有Rec8的个体都有一个父母，共同的祖先是 假设的。随后进行细胞遗传学分析的大家族家系 在适当的时候，并完成医疗和发展评估 拥有Rec8的个人将允许我们满足以下项目 目标：1.确定所有8名患者和8名携带者，以建立 风险和流行率数据。2.定义inv 8和rec 8表型 在临床和细胞遗传学水平上。3.提供家庭咨询和 计划适当的医疗护理。4.制定教育框架 医疗保健提供者和公众关于这一点的重要性 染色体异常。5.使用细胞遗传学研究结果作为工具 澄清西班牙裔人口的民族历史起源 美国西南部。涉及的科学学科包括 临床遗传学、儿科学、细胞遗传学、人类学、教育学和 种群遗传学。

Thirty-one individuals have been identified as having a recombinant chromosome 8 (rec 8) secondary to a parental pericentric inversion of chromosome 8 (inv 8). In all cases, the rec 8 has been associated with a highly specific phenotype, including developmental delay. All people with either rec 8 or inv 8 have the same breakpoints and have been of Hispanic descent, with ancestors coming from Northern New Mexico/Southern Colorado. Because of this common heritage and the presence of an inv 8 chromosome in one parent for each individual with the rec 8, a common ancestor is postulated. Extended family pedigrees with subsequent cytogenetic analysis when appropriate, and complete medical and developmental evaluation of individuals with the rec 8 would allow us to meet the following project goals: 1. Identify all rec 8 patients and inv 8 carriers to establish risk and prevalence data. 2. Define both the inv 8 and rec 8 phenotypes at the clinical and cytogenetic levels. 3. Provide family counseling and plan for appropriate medical care. 4. Develop a framework for educating health care providers and the public regarding the significance of this chromosome abnormality. 5. Use cytogenetic findings as a tool for clarifying the ethnohistorical origins of the Hispanic population in the Southwestern United States. The scientific disciplines involved include clinical genetics, pediatrics, cytogenetics, anthropology, education, and population genetics.