How do I know if my child has fragile X syndrome?
What Are the Symptoms of Fragile X?
- Trouble learning skills like sitting, crawling, or walking.
- Problems with language and speech.
- Hand-flapping and not making eye contact.
- Temper tantrums.
- Poor impulse control.
- Anxiety.
- Extreme sensitivity to light or sound.
- Hyperactivity and trouble paying attention.
How do you find out if you have fragile X syndrome?
FXS can be diagnosed by testing a person’s DNA from a blood test. A doctor or genetic counselor can order the test. Testing also can be done to find changes in the FMR1 gene that can lead to fragile X-associated disorders.
Which parent carries fragile X syndrome?
Fragile X is Inherited A mother who carries Fragile X has a 50% chance of passing the mutated gene to each of her children. Her children will either be carriers or they will have Fragile X syndrome.
What is the prognosis for Fragile X?
According to research, around 44% of women and 10% of men having fragile X syndrome are able to attain a high level of independence as adults. The life expectancy of a patient with fragile X syndrome is thought to be the same as any other normal person. The prognosis also depends on the degree of the symptoms of this condition.
What type of screening is done for Fragile X syndrome?
A specific genetic test (polymerase chain reaction [PCR]) can now be performed to diagnose fragile X syndrome. This test looks for an expanded mutation (called a triplet repeat) in the FMR1 gene.
What chromosome is fragile X sydrome linked to?
The Fragile X mental retardation 1 ( FMR1) gene is found on the X chromosome, meaning fragile X syndrome is an X-linked disorder and is passed from one generation to the next on the X chromosome. Typical men have one X chromosome and one Y chromosome and typical women have two X chromosomes.
According to research, around 44% of women and 10% of men having fragile X syndrome are able to attain a high level of independence as adults. The life expectancy of a patient with fragile X syndrome is thought to be the same as any other normal person. The prognosis also depends on the degree of the symptoms of this condition.
What do you need to know about fragile X syndrome?
- A large head
- narrow face
- Large ears
- A large forehead and chin
- Loose joints
- Flat feet
- Enlarged testicles (after puberty)
A specific genetic test (polymerase chain reaction [PCR]) can now be performed to diagnose fragile X syndrome. This test looks for an expanded mutation (called a triplet repeat) in the FMR1 gene.
The Fragile X mental retardation 1 ( FMR1) gene is found on the X chromosome, meaning fragile X syndrome is an X-linked disorder and is passed from one generation to the next on the X chromosome. Typical men have one X chromosome and one Y chromosome and typical women have two X chromosomes.