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Fragile X. By Jimmy Byers and Aaron Griggs. What is Fragile X?. Fragile X is most common inherited cause of mental impairment or retardation. 1 in 3,600 males and 1 in 4,000 to 6,000 females have it. 2% to 6% of children are diagnosed with fragile X. Type of Inheritance. Deletion
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Fragile X By Jimmy Byers and Aaron Griggs
What is Fragile X? • Fragile X is most common inherited cause of mental impairment or retardation. • 1 in 3,600 males and 1 in 4,000 to 6,000 females have it. • 2% to 6% of children are diagnosed with fragile X
Type of Inheritance • Deletion • CGG repeats on the X chromosome and causes fragile x.
Physical Symptoms of Fragile X • Male with Fragile X often have distinct facial features, connective tissue problems, and enlarged testicles. • Females with Fragile X have same physical features but to a lesser degree. Has impact on Menstrual Cycle.
How is Disorder Diagnosed? • Disorder can be noticed by certain Physical features, but cant always be told by that. • In 10% of cases Intellectual Impairment is the only presenting sign. • Can also be DNA tested for fragile X.
Can the Affected Pass it on? • Yes carriers may pass Fragile X on to children even though they may not have it themselves • Some with mild disorder can reproduce, others with a more severe disorder can’t reproduce, and either one may not chose to.
Everyday Life • Doesn’t shorten life of a person. • States provides jobs for these people • Government tries to make things as normal as possible for individuals.
Organizations That Help • www.fragilex.org The National Fragile X Foundation • www.fraxa.org Fragile X Research Foundation • www.fraxsocial.org What is Fragile X • www.conquerfragilex.org Fragile X- mental retardation
Karyotypes Normal karyotype Fragile X karyotype