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Fragile X syndrome. Fragile X syndrome ( FXS) is a genetic 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. [ 3][ 4] Physical features may include a long and narrow face, large ears, flexible fingers, and ...
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.
X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type. In medicine, X-linked dominant inheritance indicates that a gene responsible for a genetic disorder ...
Trinucleotide repeats are a subset of a larger class of unstable microsatellite repeats that occur throughout all genomes . 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 ...
Fragile X-associated tremor/ataxia 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 ...
Chromosomal fragile site. Silencing of the gene in . FMR1 co-localizes with a rare fragile site, visible here as a gap on the long arms of the . 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]
FG syndrome. FG syndrome ( FGS) is a rare genetic syndrome caused by one or more recessive genes located on the X chromosome and causing physical anomalies and developmental delays. FG syndrome was named after the first letters of the surnames of the first patients noted with the disease. [ 1]
Sex linkage. Sex linked describes the sex-specific reading patterns of inheritance and presentation when a gene mutation ( allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome ( autosome ). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three ...