FRAGILE X SYNDROME

DEFINITION:

A genetic condition causing intellectual disability. Is the most common form of inherited

mental retardation, and behavioral and emotional difficulties.

SYMPTOMS:

delays in talking, anxiety, and hyperactive behavior. Some people have seizures.

ARE THERE ANY PEOPLE THAT HAVE PARTICULARLY INFLUENCED

THE STUDY OF THIS DISORDER?:

Some organizations for Fragile X Syndrome are:

Arc of the United States : The Arc promotes and protects the human rights of people with
intellectual and developmental disabilities and actively supports their full inclusion and
participation in the community throughout their lifetimes.

National Fragile X Foundation: provides a place where people can inform themselves
about this disease, and a place where you can donate money.

National Fragile X Syndrome Support Group: They serve you by connecting and
supporting individuals and families through the Community Support Network (CSN). The
CSN is the national volunteer program of the NFXF, comprised of groups typically
organized and run by parent volunteers. The CSN provides emotional and educational
support to families and individuals living with Fragile X. The CSN groups organize events
that offer support and build awareness for Fragile X in their local communities

HOW THE GENE IS PASSED FROM ONE TO ANOTHER?

Fragile X

syndrome is a non- disjunction and it takes place in meiosis.

Which chromosome or chromosomes are affected and specifically

where on the chromosome?:

Genes are given names to identify them and the gene responsible for fragile X syndrome
is called FMR1. The FMR1 Gene is on the X chromosome.
Fragile X Syndrome (FXS) is caused by the expansion or lengthening of the FMR1 gene
on the X chromosome, known as a gene mutation. The X chromosome is one of two sex
determining chromosomes. When the gene lengthens it switches off production of a
protein that is involved in brain development and other functions.

Three to five other interesting facts that you can find as you research
your disorder. What are the treatments for those affected and is there
any treatment using gene therapy?:

Fragile X is diagnosed through a DNA sample, most typically from blood, but amniotic
fluid and other tissues can also be tested
Changes in the FMR1 gene are what lead to developing one of the Fragile X conditions.
Children and adults with fragile X syndrome (FXS) can have a variety of behaviors.
People with FXS also have many strengths when it comes to behaviors. They can also
have a variety of social issues where they may not fit in.
People with fragile X syndrome may also have developmental and speech/language
delays, including rapid and repetitive speech, some have a tendency for ear infections,
and some may have seizures.
Physical features of fragile X syndrome can include large ears, long and narrow face,
high palate (roof of mouth), flat feet, crossed/lazy eyes, hyperflexible joints, and large
testicles (in puberty).
there is currently no cure for fragile X syndrome (FXS), there are treatments that can
improve the lives of the affected people and their families. Given the proper education,
therapy, and support, all persons with FXS can make progress,but not be cured.

**the disease is passed down from parents to children through their genes
**disorder that is caused by the mutation to the X chromosomes
**Women are more than likely to be carriers of that disease than be affected because the female
has two X chromosomes. Men, on the other hand can easily get FXS from their mother carriers
since they only have one X chromosome

What is the frequency of the disorder in the

number of births? Does the disorder occur
more often in males or females? What is the
typical life expectancy of these individuals? :
The disorder is more common to women than men. 1 in 151 for women and 1 in 464 for men
People with fragile x syndrome live normal life expectancies, but will need for for the rest of their
lives.

Cites:

https://ghr.nlm.nih.gov/condition/fragile-x-syndrome
https://fragilex.org/community/fragile-x-awareness-month/31-shareable-fragile-x-facts/
https://fragilex.org/treatment-intervention/
http://fragilex.org.au/what-is-fragile-x/what-causes-fragile-x/
https://www.gstatic.com/healthricherkp/pdf/fragile_x_syndrome.pdf