Viktoriya Khadzko

Flagile X syndrome

Fragile X syndrome is an inherited genetic disease that causes intellectual and developmental
disabilities. It is also termed by Martin-Bell syndrome or Marker X syndrome. This disorder is
rare, but is chronic and can last for years or a lifetime. Occurs approximately 1 in 4.000 males
and 1 in 8.000 females (https://ghr.nlm.nih.gov/condition/fragile-x-syndrome). It affects both
males and females, but females usually have milder symptoms. Symptoms of this disorder
include delays in talking, anxiety and hyperactive disorder. Some individuals might have
seizures. Physical features might include large ears, a long face, and prominent jaw and forehead
and flat feet. (Wiki)
Fragile X syndrome is caused by a mutation in the FMR1 gene, where the DNA segment is
expanded. The DNA segment that expands repeats about 5 to 40 times. The expanded CGG
segment inactivates the FMR1 gene, which prevents the gene from producing fragile X mental
retardation protein. If they have a loss of this protein it will lead to signs and symptoms to the
fragile X syndrome. Both girls and boys can be affected with this but since boys have the X
chromosome, a single fragile X is likely to affect boys. Boys who have the full FMR1 mutation
has fragile X syndrome and will have moderate mental retardation. Both men and women may
have problems with tremors and poor coordination. (https://www.genome.gov/19518828)
Individual who has this condition some will have normal appearance, but a few individuals with
this condition will have noticeable appearance or behavioral symptoms, such as learning
difficulties or social anxiety. This condition is inherited in an X-linked dominant pattern. (Page

234, biology book). This 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. (Page
234, biology book). Characteristic of X-linked inheritance is that fathers cannot pass X-linked
traits to their sons.
There are no possible treatments for this syndrome. But there is a supportive therapy for
children. There is a special education management including avoidance of excessive stimulation,
it will help decrease behavior problems later in the future. Medication will help as well but it
hasnt shown to be beneficial.
In the conclusion for the flagile x syndrome, children who show signs of developmental delays
or other signs including a large head circumference, differences in facial features at a young age
may be tested for fragile X syndrome. Fragile X syndrome can be diagnosed using a DNA blood
test called the FMR1 DNA Test. The test looks for changes in the FMR1 gene so it will be able to
tell if the child has flagile X syndrome. The condition cannot be cured. Treatments will help
learn the individual proper language use and proper social interactions. Medications can be
prescribed for behavior disorders but it hasnt been shown that it will treat the syndrome.