Fragile X Syndrome

What is Fragile X Syndrome??

Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.
Fragile X Syndrome

The Symptons

  • developmental delays, such as taking longer than normal to learn to sit, walk, or talk compared with other children of the same age
  • stuttering
  • intellectual and learning disabilities, such as having trouble learning new skills or information
  • anxiety (general or social)
  • autism
  • impulsiveness
  • attention problems
  • social problems, such as not making eye contact with other people, disliking being touched, and trouble understanding body language
  • hyperactivity
  • seizures
  • depression
  • difficulty sleeping

Who?Gets Fragile X Syndrome?

Fragile X syndrome is the most common form of inherited mental retardation in males and is also a significant cause of mental retardation in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups.

There is currently no treatment :(

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How is FXS inherited

This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, males experience more severe symptoms of the disorder than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

I havent found anything on any well known or famous people with FXS

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Interesting facts

  1. Men will pass the premutation only to their daughters. Their sons receive a Y chromosome (and not the X), which does not have the FMR1 gene. In simple words, a male with this syndrome will have normal sons (X chromosome is derived from the mother, and not the father) and carrier daughters (as father passes on an X chromosome to all his daughters).
2. A daughter may inherit two working copies of the X-linked genes, one from her father and one from her mother. In this case, she will not be affected by the condition, and she will also not be a carrier of the X-linked recessive faulty gene. Similarly, if the son inherits working copy of the X-linked gene from a carrier mother and Y chromosome from his father, he will not be affected.
3. The symptoms of fragile X syndrome can be mild at birth, they may progress afterward. At times, children with this syndrome may appear normal at infancy, and they may exhibit typical characteristics later. Some of the physical characteristics manifested by individuals having this syndrome are large prominent ears, elongated face with a prominent jaw, highly flexible joints, and enlarged testes