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Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two. More detailed information about the symptoms, causes, and treatments of Chromosome 2p duplication syndrome is available below.
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Prognosis for Chromosome 2p duplication syndrome: The prognosis varies somewhat depending on the type and severity of symptoms that develop. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life. However, the overall prognosis is generally poor with death usually occurring within the first few years of life. Patients tend to have severe mental retardation.
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Duplication of the short arm of chromosome 2 with psychomotor retardation, characteristic facies (prominent forehead, frontal upsweep of hair, hypertelorism, micrognathia, and nose and ear malformations), narrow palate, dolichostenomelia, finger and toe abnormalities, and genital anomalies. Less frequently occurring abnormalities include neural tube defects anencephaly, encephalocele, and spina bifida), bronchial and pulmonary hypoplasia, diaphragmatic hernia, neuroblastoma, a genital anomalies, and congenital heart defects. - (Source - Diseases Database)
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