Predicting occurrence and lifetime expression of a major recurrent copy number variation

预测主要循环拷贝数变异的发生和终生表达

• 批准号: 347227
• 负责人: Bassett Anne S
• 金额: $ 82.15万
• 依托单位: Centre for Addiction and Mental Health (Toronto)
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2016
• 资助国家: 加拿大
• 起止时间: 2016-03-01 至 2021-03-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=347227&lang=en
• 关键词: 22q11.2 Deletion Syndrome; Copy Number Variation; Genetic Syndrome; Genetics; Genomic Disorders; Microdeletion; Outcome; Penetrance; Variable Expression; Whole Genome Sequencing

Babies born with a genetic deletion (missing piece of DNA) on one of the pair of chromosomes 22 are known to be at high risk of having birth defects and, later on, learning difficulties and schizophrenia. Some are severely affected and some have better ou

出生时在22号染色体之一上有基因缺失（缺失的DNA片段）的婴儿被认为有很高的出生缺陷风险，后来，学习困难和精神分裂症。有些人受到严重影响，有些人情况更好