脆性X综合征携带者筛查遗传咨询专家共识OACSTPCD
Expert consensus on genetic counselling of carrier screening for fragile X syndrome
脆性X综合征是遗传性智力障碍和孤独症谱系障碍最常见的单基因病,以X连锁不完全显性方式遗传.大约99％的脆性X综合征为FMR1基因CGG扩增动态突变导致,CGG扩增达到前突变或全突变时,可能出现相应的表型.近年来,脆性X综合征携带者筛查在我国逐渐开展起来,遗传咨询能力相对不足.为了更加规范地进行遗传咨询并提供后续生育指导,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通过多次讨论,对脆性X综合征携带者筛查的适用人群、检测前和检测…查看全部>>
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 undertake…查看全部>>
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
北京协和医院产科中心北京协和医院产科中心
临床医学
脆性X综合征携带者筛查遗传咨询专家共识
Fragile X syndromeCarrier screeningGenetic counsellingExpert consensus
《生殖医学杂志》 2024 (5)
563-568,6
国家重点研发计划(2021YFC1005304)
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