腾讯科技讯 第60届Intel ISEF英特尔国际科学与工程大奖赛将于2009年5月10日到15日在美国内华达州雷诺市举行，以下是来自中国的参赛项目介绍：
长沙市雅礼中学 高三 荣镭
Identification and analysis of a novel karyotype causing mental retardation
[Objective] To analyze the possible cause of a mental retardation patient, and provide the basis for clinical therapy and prevention of the recurrence risk of such patients.
[Methods] The study was approved by the Institutional Review Board (IRB) of Central South University, the karyotype of the patient was analyzed by chromosomal G banding, comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), and the incidence and clinical significance of the patient’s karyotype was studied.
[Results] An additive fragment was found in chromosome 11 by traditional chromosomal G banding, which was showed to be originated from chromosome 21 by the following CGH detection. The patient’s karyotype was further confirmed to be a partial duplication of chromosome 21 and partial deletion of chromosome 11 by FISH. The karyotype was finally determined to be 46,XX,der(11).ish der(11)t(11;21)(q23;q11)(WCP21+). After reviewing the literatures and applying for karyotype identification submitted to the National laboratory of Medical Genetics, the only unit to identify abnormal karyotype designated by the Ministry of Health, the karyotype was found to be novel which was not reported by any international journal. [Conclusion] A novel karyotype was discovered in this study, which provides a new genetic resource for the research of mental retardation and a new material for the cloning of corresponding disease gene, and also provides the basis for the patient’s effective treatment in the future. Moreover, this study has certain reference meaning to the etiology exploration of similar mental retardation patients.