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Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities. More detailed information about the symptoms, causes, and treatments of Chromosome 9q duplication syndrome is available below.
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Duplication of the long arm of chromosome 9 with psychomotor retardation, deeply-set eyes, microdolichocephaly, beaked nose, and microretrognathia. Depending on the length of the deleted segment, additional features may include small mouth, large ears, finger abnormalities, limited joint movement, failure to thrive, congenital heart defects, and other anomalies. Longer deletions are more likely to develop life-threatening malformations shorter ones. 9q34 is sometimes considered as a separate entity which is characterized by slight psychomotor retardation, limited speech capacity, hyperactivity, feeding difficulty, failure to thrive, joint contractures, finger abnormalities, erythema, heart murmur, blepharoptosis, strabismus, dolichocephaly, facial asymmetry, narrow palpebral fissures, microphthalmia, and downturned corners of the mouth. - (Source - Diseases Database)
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