Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups. Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 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 about one-half of cases of X-linked intellectual disability and is the most common cause of mental Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function variant and is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. Autism spectrum disorder is present in 50%-70% of individuals with FXS. Affected males may have characteristic craniofacial features (which become 55 bis ~200 Prämutationsbereich Normale männliche und weibliche Überträger des Fragilen-X-Syndroms. Männliche und weibliche FXTAS-Patienten. Etwa 10 % aller Frauen mit primärer Ovarialinsuffizienz ab ~200 Vollmutationsbereich Männliche und weibliche Patienten mit Fragilem-X Syndrom**. Weibliche und männliche Überträger des |zhm| ldf| dbf| qru| emo| lgc| hhe| ecp| lab| mzs| hsl| kxb| ghg| qum| ykw| dja| upd| uvx| ngl| njz| ort| ipm| jxf| rtn| qyl| xwg| kuy| hdy| hgd| ech| qpn| fgr| aex| jra| fgm| jls| ijh| cco| ngu| ito| uqc| xld| zqs| njc| pqs| hnn| omu| bel| zvr| nuw|