Duplication 16p

Duplication of the short arm of chromosome 16 causes mental and prenatal growth retardation with seizures and craniofacial anomalies including a round head and face, sparse hair, cleft lip, and micrognathia. Additional manifestations include skeletal anomalies including joint contractures, long tapering fingers, absent, hypoplastic, or malpositioned thumbs; cardiac malformations; and inguinal hernia in males. Ophthalmic features include hypertelorism, sparse lashes, blepharoptosis, and up- or downward slanting of the palpebral fissures, narrowing of the palpebral fissures, and nystagmus.134,198,223,293

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