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Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted. More detailed information about the symptoms, causes, and treatments of Chromosome 8q duplication syndrome is available below.
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Duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, mental deficiency, prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips, and skeletal defects. The phenotype varies in relation to the type of duplication. - (Source - Diseases Database)
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