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Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material. More detailed information about the symptoms, causes, and treatments of Chromosome 8q deletion syndrome is available below.
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Deletion of the long arm of chromosome 8 with craniofacial abnormalities (microcephaly, midfacial hypoplasia, and prominent forehead), psychomotor retardation, and various eye, nose, ear, heart, and skeletal abnormalities. The phenotype and severity of symptoms vary with the type of deletion. Interstitial deletions 8q may be associated with several syndromes, including the tricho-rhino-phalangeal syndromes I and II (Langer-Giedion syndrome). - (Source - Diseases Database)
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