Fragile X Syndrome

Topics: Mental retardation, Autism, Chromosome Pages: 4 (1368 words) Published: December 6, 2007
The chromosomes on a normal person are 23 pairs and the sex chromosomes. For males it is XY for sex chromosomes and females is XX. If a person has Fragile X Syndrome the X chromosome has a little bend on the end of the chromosome. In order for someone to get Fragile X Syndrome, one of their parents must either be a carrier or have the disease. It is more likely in males because they only have one X and one chance. Females have 2 X's so they are less likely to get Fragile X Syndrome. Impairment from Fragile X Syndrome can be learning disabilities or it can lead to autistic like behaviors. There can be severe cases and there are some cases that are not so severe. It usually affects males more often. It impairs memory, tremors, and balance. This genetic disorder and be passed on to offspring even if there isn't a sign of it in both parents. Some families can have a first person to be diagnosed and others may have the genetic disorder already in their family. The most common cause of mental retardation is known as Fragile X Syndrome. The FXS is something that shuts down the gene that makes the brain function normally. That is why people that have fragile X Syndrome are mentally retarded. The exact definition of Fragile X Syndrome is, "the inherited presence of a mutated gene on the X chromosome, which results in production of too little of a particular protein in the body.

Some of the symptoms of Fragile X Syndrome in males is large ears, flexible joints, low muscle tone, broad forehead, flat feet and soft, fleshy skin. "In our sample of 75 parents of young boys with fragile X syndrome, typically someone first becomes concerned about the child around 8-10 months of age. Typical concerns voiced are inability to cuddle, lack of regular routines, fussiness or delayed attainment of developmental milestones (walking, talking). Sometimes these signs are subtle, and it may take a long time for a physician or other professional to acknowledge that a problem exists."...
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