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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 syndrome affects about two to five percent of people with ASD. [40] If one child has Fragile X, there is a 50% chance that boys born to the same parents will have Fragile X (see Mendelian genetics). Other members of the family who may be contemplating having a child may also wish to be checked for the syndrome.
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 .
Global developmental delay is an umbrella term used when children are significantly delayed in two or more areas of development. It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills, speech, cognitive skills, and social and emotional development. [1]
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] The condition is also a rare sign of McCune–Albright syndrome. [2] The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.
Fountain syndrome; Foville's syndrome; Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Franceschetti–Klein syndrome; Frank–ter Haar syndrome; Fraser syndrome; Frasier syndrome; Freeman–Sheldon syndrome; Frey's syndrome; Froin's syndrome; Fryns syndrome; Functional somatic syndrome
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.
Fragile X syndrome is so named because of the appearance of the X chromosome in individuals with fragile X. Under an electron microscope, a region on the long arm of the chromosome resembles a thin string. Investigation showed that this region consists of a CGG repeat triplet in both normal and diseased individuals. [1]