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Essay / Research Paper Abstract
This 12 page paper discusses Fragile X syndrome in depth. It covers the etiology, epidemiology, prognosis, and pathology. Included are examples of inheritance, types of mutations, number of alleles, mode of action, functions of the proteins, gender and treatments. Bibliography lists 6 sources.
Page Count:
12 pages (~225 words per page)
File: D0_MBfxsyn.rtf
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Unformatted sample text from the term paper:
rarely mentioned and even less known by the general public. What is particularly devastating about this type of mental retardation is that children develop normally but then gradually begin to
develop the typical physical characteristics of Fragile X as they grow older. Parents and families can literally and hopelessly watch as their perfectly normal child slips into a type of
void created by an abnormality on the X chromosome. Since this type of mental retardation occurs on the X chromosome, this disease typically affects more males than females. Mental deficiency
may range from mild learning disabilities and acute hyperactivity to severe mental retardation, even autism(Fragile X, 2002). ETIOLOGY: What happens to
the X chromosome is that the X part of the pairing has some trinucleotide repeat problems(NIH, 2002). The National Institute of Health has found that Fragile X syndrome contains
a sequence of the trinucleotide CGG(NIH, 2002). Apparently, according to the NIHs research(2002), most normal people have between ten to fifty of these types of repeats whereas those who show
symptoms from this disease can have as many as two hundred to two thousand repeats. Thus the disease is caused by a fragility of the X chromosome and hence the
title: Fragile X Syndrome. However, it must be said that the genetic tendency to recombine and repeat in such a exponential way
is not linked genetically to the father, though the son may exhibit the symptoms. This is because, more than likely that the mother is the carrier of the Fragile X
gene. It is stated (National Inst. Health, 2002) that women who have had fathers with Fragile X have as much as a fifty percent chance of passing this chromosome to
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