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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.
Though the greatest risks for female carriers of an FMR1 premuation are developing POI and having a child with fragile X syndrome, there are other possible neurological and neuropsychiatric conditions that may occur. [16] [17] Roughly 8-15% of female premutation carriers will develop the late-onset neurodegenerative tremor/ataxia disorder FXTAS ...
Along with her husband Paul Hagerman, she discovered the Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurological disorder that affects older male and rare female carriers of fragile X. [3] [4] She was recognized on a list of the world's top female scientists [5]
Fragile X autistic characteristics were shared with that of idiopathic autism however. Meguid developed a simple molecular screening method to detect premutation carriers of fragile X syndrome. A premutation carrier is an individual who has between 55-200 CGG repeats in the Fragile X (FMR1) gene. The full mutation has over 200 CGG repeats.
X-linked genetic disorders can arise when there is a spontaneous and permanent change in the DNA sequence of an X-linked gene, known as mutation. Traits or diseases caused by X chromosome genes follow X-linked inheritance, the difference between recessive and dominant inheritance affects the probability of an offspring acquiring it from the ...
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 ...
The paradox was named in the late 1980s after American geneticist Stephanie Sherman, who studied the inheritance patterns of people with fragile X syndrome. Sherman observed that the effects of fragile X syndrome seemed to occur more frequently with each passing generation. This observation became known as the Sherman paradox. [2]
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.