appear normal at birth but their development is delayed. Most boys with fragile X syndrome have mental impairment. The severity of mental impairment ranges from learning disabilities to severe mental retardation
No, fragile x syndrome is not progressive
The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome.
The karyotype for fragile X syndrome typically shows a normal chromosomal structure, but it is characterized by a mutation in the FMR1 gene located on the X chromosome. This mutation involves the expansion of CGG repeats, often exceeding 200 repeats, leading to a fragile site on the X chromosome that can appear as a constriction or gap during chromosomal analysis. The presence of this fragile site is associated with the developmental and cognitive features of fragile X syndrome.
Martin Bell Syndrome.
Early diagnosis and intensive intervention offer the best prognosis for individuals with fragile X syndrome. Adults with fragile X syndrome may benefit from vocational training and may need to live in a supervised setting. Life span is typically normal
also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome
Martin bell
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A non-repeat mother without fragile X syndrome cannot pass the condition to her male offspring. Fragile X syndrome is caused by mutations in the FMR1 gene, specifically the expansion of CGG repeats, which typically occurs in carriers with a certain number of repeats. Since the mother does not have the syndrome or carry the premutation, her male offspring would not inherit the genetic mutation associated with fragile X syndrome.
"Chromosomal analysis" should not be used for Fragile X Syndrome determination. Chromosomal analysis, Karotyping, has proven unreiable in diagnosis. Detemination can be made through DNA testing for Fragile X Syndrome, FMR1 DNA test.
affects males and females of all ethnic groups. It is estimated that there are about one in 4,000 to one in 6,250 males affected with fragile X syndrome. There are approximately one-half as many females with fragile X syndrome as there are males
mutation