Early gesture use in fragile X syndrome

Early Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran

Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...

The fragile X syndrome.

We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...

Fragile X syndrome.

Fragile X syndrome

Fragile X syndrome occurs as a result of a mutation of the fragile X mental retardation 1 (FMR1) gene on the bottom of the X chromosome (Pic. 1), which encodes fragile X mental retardation protein (FMRP). This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. The CGG triplet that means gene segment consisting of a cytosine...

Fragile X Syndrome

groups with asthma. Thus the scientist must weigh the advantages of performing genetic studies in small, historically isolated populations with the potential disadvantage of being unable to eventually generalize the studies’ results. SEE ALSO Genetic Drift; Hardy-Weinberg Equilibrium; Inbreeding; Linkage and Recombination; Mapping; Population Bottleneck; Population Genetics; Tay-Sachs Disease.