生殖医学杂志2024，Vol.33Issue(5)：563-568,6.DOI:10.3969/j.issn.1004-3845.2024.05.001
脆性X综合征携带者筛查遗传咨询专家共识
Expert consensus on genetic counselling of carrier screening for fragile X syndrome
摘要
Abstract
Fragile X syndrome is the most common monogenic disorder causing inherited intellectual disability and autism spectrum disorder.It is inherited by an incomplete dominant X-linked fashion.Approximately 99％of fragile X syndrome is caused by the CGG trinucleotide repeat expansion of FMR1 gene,and the corresponding phenotype may appear when CGG expansion reaches pre-mutation or full mutation.Carrier screening of fragile X syndrome has been increasingly undertaken in China,yet the ability of genetic counselling is relatively insufficient.In order to conduct a more standardized genetic counselling and a better fertility guidance,the Consensus Expert Group on Carrier Screening for Monogenic Disorders and Genetic Counselling Group in Society of Medical Genetics,Chinese Medical Association have reached a consensus on the appropriate testing population and the content of pre-and post-test genetic counselling for fragile X syndrome through multiple rounds of discussion and Delphi procedure.关键词
脆性X综合征/携带者筛查/遗传咨询/专家共识Key words
Fragile X syndrome/Carrier screening/Genetic counselling/Expert consensus分类
医药卫生引用本文复制引用
单基因病携带者筛查共识专家组,中华医学会医学遗传学分会遗传咨询学组,周希亚,戚庆炜,常清贤,卢彦平..脆性X综合征携带者筛查遗传咨询专家共识[J].生殖医学杂志,2024,33(5):563-568,6.基金项目
国家重点研发计划(2021YFC1005304) （2021YFC1005304）
