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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 .
A research study was done in 2014 to learn if there is a relationship between macroorchidism and intellectual disability associated with decreased levels of Fragile X Mental Retardation 1 gene protein (FMRP), but in the pre-mutation or carrier state. FMRP is made from FMR1 gene, and is mainly in the brain and testis.
The cause of the condition lies in conception or utero with the aggregation of two distinct zygotes or blastocysts (one of which expresses 46,XX and the other of which expresses 46,XY) into a single embryo, [4] which subsequently leads to the development of a single individual with two distinct cell lines, instead of a pair of fraternal twins.
Fragile X-associated primary ovarian insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46,XX. [1] The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. [2]
Dyslipidemia. Dyslipidemia is when the lipids in your blood are too high or too low. Estimates suggest that 53 percent of adults in the U.S. have lipid abnormalities.. Lipids are a type of fat ...
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.
AGS can cause a range of symptoms: mild ones like a rash or hives, or more severe ones such as difficulty breathing, and even anaphylaxis, says infectious disease expert Amesh A. Adalja, M.D ...