Duplication 10q

Duplication of the long arm of chromosome 10 is characterized by severe growth retardation. Craniofacial features include microcephaly, high forehead, midfacial hypoplasia with a broad nasal bridge, an upturned nose, microstomia, micrognathia, cleft lip/palate, and a short neck. Additional features include skeletal anomalies such as generalized laxity, scoliosis, and campto-dactyly, and cardiac and renal malformations. Ophthalmic manifestations include hypertelorism, epicanthus, downward slanting and/or narrow palpebral fissures, strabismus, enoph-thalmia, blepharoptosis and blepharophimosis, cataract, and microphthalmia.20,96,114,180,186,273,410

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