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Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated. More detailed information about the symptoms, causes, and treatments of Chromosome 5p duplication syndrome is available below.
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Prognosis for Chromosome 5p duplication syndrome: The prognosis varies considerably depending on the type and severity of symptoms that develop. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life.
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Duplication of the short arm of chromosome 5 most frequently associated with craniofacial, cardiac, renal, and limb abnormalities, and moderate to severe mental retardation. Dandy-Walker malformation (agenesis of the cerebellar vermis, hydrocephalus, and posterior fossa cyst continuous with the fourth ventricle) occurs in some cases. The phenotype is related to the amount of genetic material duplicated and the specific duplicated segment. - (Source - Diseases Database)
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