培训学习资料-脆性X综合征FragileXSyndrome_基础医学_医药卫生_专业资料。脆性综合征脆性综合征概述临床特征实验室诊断治疗预后风险评估和遗传咨询产前诊断典型病例概述脆性综合征又称综合征三核苷酸重复病最常见的连锁的单基因性智力低下综合征发病率仅次于三体综合征群体发病率男性全突变率女性全突变率男性前突变携带者女性...
TakingSTEPsforwardtounderstandingFragileXSyndrome SusanM.Goebel-GoodyandPaulJ.Lombroso * ChildStudyCenter,YaleUniversitySchoolofMedicine,NewHaven,CTUSA SusanM.Goebel-Goody:susan.goebel-goody@yale.edu Abstract ApriorityofFragileXSyndrome(FXS)researchistodeterminethemolecularmechanisms underlyingthefunctional,...
brain sciences Article Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities Jayne Dixon Weber 1,*, Elizabeth Smith 2,* , Elizabeth Berry-Kravis 3, Diego Cadavid 4, David Hessl 5 and Craig Erickson 6 1 National Fragile X Foundation, ...
GCAT genesT A C G GCAT Review Development of Genetic Testing for Fragile X Syndrome and Associated Disorders, and Estimates of the Prevalence of FMR1 Expansion Mutations James N. Macpherson 1,* and Anna Murray 2 1 Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury ...
Keywords: newborn screening; fragile X syndrome 1. Introduction DNA sequencing technology has the potential to change the range of conditions currently screened for using the newborn screening blood spot. To assess conditions, all criteria [1] used for the inclusion of screening tests needs to be...