Fragile X Syndrome Research Paper

FRAGILE X SYNDROME: A COMMON UNKNOWN GENE
Everyday day babies are born with disabilities. A majority of these are surprises to the new parents. Conditions such as: Down Syndrome, sensory impairments and neurological disorders are known to most people but still not anticipated. Fragile X Syndrome is a gene mutation that affects thousands of people, making it important to know how the disorder changes the social and emotional aspects of a person’s development and life.
DEFINITION OF FRAGILE X SYNDROME Many people haven’t heard of Fragile X Syndrome, and many who have don’t know what really causes it. According to Elizabeth C. Ballinger, graduate program in Neuroscience at Stony Brook University in New York, “Fragile X Syndrome is the most common

One in 150 women and one in 450 men have the FXS premutation and risk giving it to their child (Skomorowsky). A baby inherits FXS if the chromosome they receive from the parent carries the premutation. Since everyone has two sex chromosomes, even if the one of the parents carries the premutation, their is only a 50% risk of transfer to the baby (Carvajal & Aldridge 24). Boys are more likely to be born with Fragile X Syndrome because they have one X chromosome and one Y chromosome, while a girl has two X chromosomes, so the syndrome doesn’t affect them as badly. However, the premutation gene is more common in girls than boys (Skomorowsky). If a person carries the premutation gene and does not pass the affected X chromosome to their offspring, that person can still have other complications or problems. According to the National Human Genome Research Institute, “Males who have a premutation...are at risk for fragile X associated tremor/ataxia syndrome (FXTAS).” Other complications that can occur when you carry the premutation are: fibromyalgia, thyroid disease, hypertension, neuropathy and premature ovarian failure

Knowing when to test a person for FXS and what a test does is crucial. If a child shows developmental delays, family members show developmental delays or autistic features, female relatives have a history of ovarian insufficiency or premature menopause, it is a possibility that that person has FXS and should be tested (Carvajal & Aldridge 57). Symptoms of slow development in toddlers and infants are often observed before anything else. Delays in speech, emotional difficulties and being sensitive to certain sensations are some of the symptoms to look for (Cleveland Clinic). There are several tests that determines if a person has FXS or not. Some are done by blood, others by chromosomal examination. One accurate test in diagnosing FXS is the Polymerase Chain Reaction, which determines the number of CGG repeats in the gene. Another test is the Southern Blot analysis which diagnoses the genes size, if it has the full mutation and whether its methylated. Testing determines if a person has FXS or is a carrier of the Fragile X gene.