Fragile X Carrier Tests 

By  Staff Writer

Fragile X Carrier Tests

Fragile X Carrier Tests
The genetic disorder known as fragile X syndrome can be responsible for physical and mental developmental difficulties. Although both males and females can be affected by it, males represent the vast majority of cases. Moreover, their symptoms tend to be far more severe.

About Fragile X Syndrome

Researchers Martin and Bell were the first to demonstrate that a particular form of mental retardation was X-linked, meaning that they were the result of a disease that was inherited from a child’s mother. Eventually, this form of retardation became known as fragile X syndrome. Herbert Lubs created a chromosomal test for fragile X syndrome in the late 1960s, which came into extensive use throughout the next decade. The Fragile X Mental Retardation gene, or FMR1, was identified in 1991.

When the FMR1 gene is mutated, fragile X syndrome is the result. The FMR1 gene is typically responsible for helping with generation of the FMRP protein. When it is mutated, production of the FMRP protein is negatively affected. This results in faulty synapses, which means that nerve impulses cannot be successfully relayed.

Symptoms of Fragile X Syndrome

Males with fragile X tend to suffer the most severe symptoms. Diagnoses of ADD, ADHD and autistic disorders are extremely common. Some signs begin to appear by the age of two, with many of the most obvious symptoms being related to delayed language abilities. Children with the disorder have difficulty making eye contact, may be aggressive, display social anxiety and have sensory disorders. Intellectual disabilities may be significant, particularly in boys.

Physical characteristics may also change because of the disorder. The ears may become enlarged and the face become longer as the years pass. Extremely soft skin and enlarged testicles may also occur. Most boys with fragile X will have severe connective tissue problems that make their joints hyper flexible, predispose them to ear infections and give them a high arched palate.

Females are subject to many of the same mental and learning disabilities, though they often take a milder form. They may have social anxiety and mild emotional and mental health issues. A limited number of girls with the disorder have no symptoms and are only identified after a male relative is diagnosed.

Life Expectancy with Fragile X Syndrome

People who have fragile X syndrome enjoy the same life span as people who do not have it. Their disorder does not include any life-threatening components. This means that many people who have fragile X are able to lead long, full lives.

Fragile X Carriers

Fragile X syndrome is considered an X-linked disorder, meaning that it is inherited from the mother. Typically, a woman who is a carrier exhibits no signs of it. Women who are carriers have a 50 percent chance of having offspring who are affected by the mutation. Adult females may want to be tested as a carrier if there is a family history of the disorder. Additionally, when the family has cases of autism and mental retardation with unknown causes, it is wise to seek testing.

Why Fragile X Genetic Carrier Testing Is Important

Scientists believe that one in every 260 women may be a carrier of fragile X syndrome. The disorder can affect people of all ethnicities and racial groups. Having had previous children who were not born with fragile X syndrome does not determine whether or not a subsequent child will be affected by the mutation. A small sample of blood can provide answers with a 99 percent degree of accuracy.

Contact DNAcarriertests.com to learn more about being tested to find out if you are a fragile X syndrome carrier.

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