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  • Duplication of the short arm of chromosome 12 with multiple congenital abnormalities consisting of characteristic facies, increased birth weight, severe psychomotor retardation, and occasional postpartum asphyxia. Additional findings may include turricephaly, high forehead, everted lower lip, ear abnormalities, foot deformities, accessory nipples and, less frequently, congenital heart defects, anal atresia, and other anomalies.
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