Fragile X Syndrome
Paul Keel
CDV 106
Cassandra Johnson
December 2, 2013
Script for Fragile X Presentation
Slide 1.
FRAGILE X SYNDROME
Slide 2.
Fragile X syndrome (FXS) is a genetic disorder and the leading cause of inherited mental retardation. Children with this syndrome often have significant delays in learning, autistic-like behavior, hyperactivity, and a distinctive physical appearance
Slide 3.
The term “fragile X” comes from the finding that the X chromosomes of affected individuals have a fragile site that causes the chromosome to break under certain test conditions.
Slide 4.
FMR-1
The gene causing fragile X, FMR-1, is located on the X chromosome at the so-called “fragile” site that gives the syndrome its name. The protein it produces is believed to play a role in brain development. The FMR-1 gene was found to contain repeats of a particular 3-base CGG sequence. When the length of this repeat becomes too long it causes Fragile X syndrome.
Slide 5.
THERE IS NO CURE FOR FRAGILE X SYNDROME
Slide 6.
It is more common and severe in boys than girls
Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect males more severely. You can have fragile X syndrome even if your parents do not have it.
Slide 7.
It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears
Slide 8.
Pictures of two boys with Fragile X characteristics
Slide 9.
CHARACTERISTICS INCLUDE
1. Large head, long narrow face, prominent forehead , jaw, and large ears.
2. Low muscle tone.
3. Flexible joints.
4. Crossed eyes (Strabismus).
5. High arched palate in the mouth.
6. Chest indentation
7. Flat feet
Slide 10.
FEATURES OF FRAGILE X IN FEMALES
1. Same as males but often milder.
2. 1/3 of FXS females have a significant intellectual disabilities.
3. Can have moderate or mild
CDV 106
Cassandra Johnson
December 2, 2013
Script for Fragile X Presentation
Slide 1.
FRAGILE X SYNDROME
Slide 2.
Fragile X syndrome (FXS) is a genetic disorder and the leading cause of inherited mental retardation. Children with this syndrome often have significant delays in learning, autistic-like behavior, hyperactivity, and a distinctive physical appearance
Slide 3.
The term “fragile X” comes from the finding that the X chromosomes of affected individuals have a fragile site that causes the chromosome to break under certain test conditions.
Slide 4.
FMR-1
The gene causing fragile X, FMR-1, is located on the X chromosome at the so-called “fragile” site that gives the syndrome its name. The protein it produces is believed to play a role in brain development. The FMR-1 gene was found to contain repeats of a particular 3-base CGG sequence. When the length of this repeat becomes too long it causes Fragile X syndrome.
Slide 5.
THERE IS NO CURE FOR FRAGILE X SYNDROME
Slide 6.
It is more common and severe in boys than girls
Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect males more severely. You can have fragile X syndrome even if your parents do not have it.
Slide 7.
It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears
Slide 8.
Pictures of two boys with Fragile X characteristics
Slide 9.
CHARACTERISTICS INCLUDE
1. Large head, long narrow face, prominent forehead , jaw, and large ears.
2. Low muscle tone.
3. Flexible joints.
4. Crossed eyes (Strabismus).
5. High arched palate in the mouth.
6. Chest indentation
7. Flat feet
Slide 10.
FEATURES OF FRAGILE X IN FEMALES
1. Same as males but often milder.
2. 1/3 of FXS females have a significant intellectual disabilities.
3. Can have moderate or mild