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Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities. More detailed information about the symptoms, causes, and treatments of Chromosome 22q deletion syndrome is available below.
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Deletion of the long arm of chromosome 22 with variable dysmorphic features consisting of a round face, almond-shaped palpebral fissures, bulbous nose, malformed ears, hypotonia, short stature, mental retardation, and other anomalies. Deletion of the proximal long arm of chromosome 22 (22q11) has been associated with familial DiGeorge and velocardiofacial syndromes and terminal deletion was found in Goldenhar syndrome. Abnormalities of chromosome 22 are also suspected of being involved in the etiology of neoplastic diseases. - (Source - Diseases Database)
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