Abstract
A partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30-year-old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Duplication 1p cases are reviewed.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Abnormalities, Multiple / genetics*
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Adult
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Chromosome Aberrations / genetics*
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Chromosome Disorders
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Chromosomes, Human, Pair 1 / genetics
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Chromosomes, Human, Pair 1 / ultrastructure*
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Cleft Palate / genetics
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Dwarfism / genetics
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Female
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Humans
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Intellectual Disability / genetics*
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Male
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Pedigree