What is Fragile X Syndrome?
According to Centers for Disease Control and Prevention, Fragile X Syndrome (FXS) is the most common known cause of inherited intellectual disability.
- It's a genetic condition that causes the intellectual disability. It's a shutting off of one gene that prevent further production of much needed protein for brain development.
- It is the most common known genetic cause of Autism Spectrum Disorder.
- Children with FXS have problem with learning, speech and language, problem with behavior and sensory.
Associated Fragile-X Disorders
Fragile X-associated Tremor/Ataxia syndrome (FXTAS)
- Affects older male with imbalance.
- FXPOI leads to infertility, early menopause in some women carriers of FMR1 gene
When was it first discovered?
In 1943 Martin and Bell identified of X linked of chromosomes to mental retardation after an investigation of a family with males family member with intellectual impairment. Herbert Lubs developed chromosomal X test in 1969. However, it was not really put into use until late 1970. Fragile X Syndrome (FXS) is the most common cause of intellectual disabilities, autism, mental retardation.
How did it get its name?Fragile X Syndrome is also known as Martin-Bell Syndrome or Marker X Syndrome. The name Fragile X Syndrome is derived from its link to X chromosomes. Under examination of the chromosomes in laboratory, the tip of the chromosomes affected by FXS appear broken.
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References
http://www.fragilexscreening.net.au/pages/Causes/Syndrome.aspx
https://www.cdc.gov/ncbddd/fxs/
http://www.fragilexscreening.net.au/pages/Causes/Syndrome.aspx
https://www.cdc.gov/ncbddd/fxs/