Search results
Results from the WOW.Com Content Network
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile X syndrome (FXS) over the age of 50. [4] [5] The main clinical features of FXTAS include problems of movement with cerebellar gait ataxia and action tremor.
The first trinucleotide repeat disease to be identified was fragile X syndrome, which has since been mapped to the long arm of the X chromosome. Patients carry from 230 to 4000 CGG repeats in the gene that causes fragile X syndrome, while unaffected individuals have up to 50 repeats and carriers of the disease have 60 to 230 repeats.
X-linked intellectual disability and macroorchidism (fragile X syndrome) X: X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) X: Xp11.2 duplication syndrome Xp11.2: D [34] 1:1,000,000 X-linked severe combined immunodeficiency (X-SCID) X: X-linked sideroblastic anemia (XLSA) ALAS2 (X) 47,XXX (triple X syndrome) X C 1: ...
Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes.The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1]
Fragile X syndrome. Fragile X syndrome type 1; Fragile X syndrome type 2; Fragile X syndrome type 3; Fragoso–Cid–Garcia–Hernandez syndrome; Franceschetti–Klein syndrome; Francheschini–Vardeu–Guala syndrome; Francois dyscephalic syndrome; Franek–Bocker–Kahlen syndrome; Fraser–Jequier–Chen syndrome; Fraser-like syndrome ...
Symptoms begin 12 to 48 hours after exposure to the virus and last for about 1 to 3 days. Even after recovering, infected individuals can be contagious for two more weeks.
Fragile X syndrome carriers (those that fall within the premutation range) typically have unmethylated alleles, normal phenotype, and normal levels of FMR1 mRNA and FMRP protein. [36] Fragile X syndrome men possess alleles in the full mutation range (>200 repeats) with FMRP protein levels much lower than normal and experience hypermethylation ...