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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.
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 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.
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: ...
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.
FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a human gene [5] that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. [6] This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.
Silencing of the FMR1 gene in Fragile X syndrome. FMR1 co-localizes with a rare fragile site, visible here as a gap on the long arms of the X chromosome.. A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend to break [1] when the cell is exposed to partial replication stress. [2]
Gonadectomy is recommended in individuals with Swyer syndrome due to the risk of malignant tumors from the mosaicism in the Y chromosome. [10] Gonadal dysgenesis has also been related to other syndromes such as Wilms tumour-aniridia syndrome (WAGR syndrome). As described in the name, individuals with this syndrome have a Wilms tumor (type of ...