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Fragile X Syndrome

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Mikaela O'Sullivan

on 1 April 2013

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Transcript of Fragile X Syndrome

Fragile X Syndrome Mikaela O'Sullivan 9-2 History and Beyond Fun Facts and Photos Fun Facts Karyotypes Punnett Square Foundations Is there a cure? Research History What Is Fragile X Syndrome Symptoms What causes the change? Whats What Some of these may be present at birth while others might develop after puberty

Behavior problems associated with fragile X syndrome include:
Delay in crawling, walking, or twisting
Hand clapping or hand biting
Hyperactive or impulsive behavior
Intellectual disability
Speech and language delay
Tendency to avoid eye contact In 1943, J. Purdon Martin and Julia Bell found that one form of mental retardation was X-linked.
That would be later called Fragile X.
In 1969, Herbert Lubs developed the chromosomal test for Fragile X.
Though, the test he created was really used until the late 1970's.
In 1991 the FMR1 gene that causes Fragile X was identified.
There is no cure for Fragile X Syndrome.
There is no specific treatment, but instead special techniques and education that can help the affected children Today there are about 500 studies going on as we speak about Fragile X
Chapel Hill
UNiversity of Louisville
Autism Speaks
To name a few
"A clinical study on fragile X syndrome that involves a medication designed to correct a central neurochemical defect underlying fragile X syndrome began in Fall 2009. This clinical study is funded by the National Institute of Mental Health (NIMH), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Institute of Neurological Disorders and Stroke (NINDS). "
Most famous study going on Today there are three main foundations/orgainzations made to benefit and help patients and fund research
National Fragile X Foundation
Friends for Fragile X Also called Martin- Bell Syndrome or Marker X Syndrome
Fragile X can be the cause of autism or related disorders, but not all patients have these
Fragile X is the most common inherited learning disability
It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups.
Most people who are effected with Fragile X syndrome don't live untill after 35 Fragile X Syndrome is a genetic condition involving changes in part of the X chromosome.
It is most common in males but appears in both males and females.
X-linked Dominant pattern
It is caused by a change in a gene called FMR1
This gene makes a protein that is needed for your brain to grow properly
A defect in this gene could cause your body to produce little of this protein or even none at all The change is caused by a small part of the genetic code to repeat on a fragile piece of the X Chromosome - Hence the name Fragile X Syndrome
This usually results in a piece of the Chromosome to hang by a thread Physical signs may include:
Flat feet
Flexible joints and low muscle tone
Large body size
Large forehead or ears with a prominent jaw
Long face
Soft skin
Premature menopause
Difficulty becoming pregnant There are very few outward signs of Fragile X syndrome in babies. Some signs may include:
Large head circumference in babies
Intellectual disability
Large testicles after the start of puberty
Subtle differences in face feature
In females, shyness is the only sign of this disorder
Genetic testing can diagnose for sure this disorder Signs
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