Duplication 14q

Duplication of the long arm of chromosome 14 is associated with growth retardation, microcephaly, and seizures. Features include a low anterior hairline, low-set and dysplastic ears, a prominent tip of the nose with a broad base, a large mouth with a thin upper lip, and micrognathia; the palate may be highly arched or clefted. Cardiac and genital malformations may be evident. Ophthalmic features include hypo- or hypertelorism, downward slanting of the palpebral fissures, blepharoptosis or blepharophimosis, strabismus, congenital glaucoma, microcornea, and microphthalmia.15,89,268,276

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