Duplication 16q

Duplication of the long arm of chromosome 16 causes postnatal growth retardation with hypotonia and characteristic craniofacial features including asymmetry with bitemporal narrowing, a high forehead, large metopic suture, prominent nose with a broad tip, thin upper lip, cleft palate, micrognathia, low-set, dysplastic ears, and a short neck. Other features include an imperforate or abnormally positioned anus; skeletal, gastrointestinal, and cardiac malformations; and dermatological abnormalities. Ophthalmic features include hypertelorism, epicanthus, up- and downward slanting and/or narrowing of the palpebral fissures, strabismus, decreased or long lashes, lid entropion, periorbital edema, deep-set globes, and strabismus.17,39,146,313,338,406

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