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Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated. More detailed information about the symptoms, causes, and treatments of Chromosome 8p duplication syndrome is available below.
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Prognosis for Chromosome 8p duplication syndrome: The prognosis varies depending on the type and severity of symptoms that develop - patients with her defects or other severe problems will tend to have a poorer prognosis. Survivors tend to have at least some degree of mental retardation. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life.
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Duplication of the short arm of chromosome 8, either de novo or resulting from parental translocation, associated with craniofacial defects (high forehead, frontal or parietal bossing, carp mouth, full cheeks, and round face), brevicollis with redundant skin folds, mental retardation, and other abnormalities. Phenotypic expression is related to the length of the duplicated segment. - (Source - Diseases Database)
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