What does Fragile X syndrome affect?
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2.
What chromosome is affected by fragile X syndrome?
Fragile X results from a change or mutation in the Fragile X Mental Retardation 1 (FMR1) gene, which is found on the X chromosome. The gene normally makes a protein called Fragile X Mental Retardation Protein, or FMRP.
What is the most common cause of fragile X syndrome?
Cause of Fragile X syndrome Fragile X syndrome is caused by a change to a gene on the X-chromosome called the FMR1 gene. This gene produces a protein that helps the brain to function normally. If this gene is changed or altered in any way, it cannot produce its normal protein, which can result in Fragile X syndrome.
Who is most likely to get fragile X syndrome?
Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups.
What is a fractured chromosome?
Description: Chromosome breakage disorders are a group of related diseases which are characterized by spontaneous chromosome breakage, immunodeficiency and predisposition to malignancy. These conditions include Fanconi Anemia, Ataxia-Telangiectasia, Bloom syndrome, LIG4 syndrome, and Nijmegen breakage syndrome.
What are the symptoms of a fragmented chromosome?
Signs and symptoms
- Physical phenotype. Large, protruding ears (both)
- Intellectual development.
- Autism.
- Social interaction.
- Mental health.
- Vision.
- Neurology.
- Working memory.
What is the cause and effect of Fragile X syndrome?
Cause Cause. Mutations (changes) in the FMR1 gene cause fragile X syndrome (FXS). This gene carries instructions to make a protein called the fragile X mental retardation 1 protein. The FMR1 gene contains a section of DNA called a CGG triplet repeat, which normally repeats from 5 to around 40 times.
Is genetic testing available for Fragile X syndrome (FMR1)?
Yes, genetic testing is available for fragile X syndrome . Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the diagnosis of an FMR1 -related disorder (including fragile X syndrome) has been confirmed in a family member. [6]
What is fragile X-associated tremor/ataxia syndrome (FXS)?
About 20% of women with a premutation have premature ovarian failure, and some people with a premutation have an increased risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS). [4] Fragile X syndrome (FXS) is inherited in an X-linked dominant manner. A condition is X-linked if the responsible gene is located on the X chromosome.
What are the signs and symptoms of Fragile X premutation?
Males and females who have a fragile X premutation have normal intellect and appearance. A few individuals with a premutation have subtle intellectual or behavioral symptoms, such as learning difficulties or social anxiety.