Fragile X syndrome (FXS) represents the most common form of inherited mental retardation, and is associated with a highly variable cognitive and behavioral phenotype as well as a characteristic profile of physical features. FXS is caused by a trinucleotide repeat expansion in the FMR1 gene, lead...
(i.e., the fragile X mental retardation gene mutation). The highly variable physical characteristics offragile X syndromeare insufficient indicators of risk, particularly because some of those features (e.g., a longfaceand protruding ears) are not observed in all persons with the syndrome and ...
Fragile X syndrome (FXS), also known as Martin-Bell syndrome in the past, is a non-Mendelian trinucleotide repeat disorder. FXS is the most prevalent inherited cause of mild-to-severe intellectual disability and the most common monogenic cause of autism spectrum disorder.[1][2]It accounts for...
3 ⅐ No. 5 review FMR1 and the fragile X syndrome: Human genome epidemiology review Dana C. Crawford, PhD1,2, Juan M. Acun˜a, MD3,4, and Stephanie L. Sherman, PhD5 The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms...
Individuals with fragile X syndrome (FXS) are more likely to experience cognitive impairment, physical abnormalities, and behavioral problems such asanxiety, aggressiveness, impatience, and repetitive behavior. FXS does not affect everyone in the same way. Even members of the same family who have FXS...
Fragile X Syndrome is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics, it occurs in both genders but effects males more. Also is the most common gene for Autism worldwide, every week in Australia one child is born who is...
ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study Yoshimi Inaba, PhD1, ...
Fragile X syndrome is the most common inherited cause of learning difficulties, affecting a child's ability to tackle key areas such as literacy and numeracy, and causing behaviour problems and social anxiety. This text provides support and information for teachers, for whom meeting the educational...
Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP). It
Fragile X syndrome (FXS) is the most frequent genetic cause of intellectual disability (ID). It was previously believed that the FXS prevalence was low in Chinese population, and the cost-efficiency of FXS carrier screening was questioned. This retrospective observational study was conducted between...