Duplication 5p

Partial trisomy of the short arm of chromosome 5 is rare and the general features are relatively nonspecific; ophthalmic manifestations are common. Affected individuals have macro-dolicho-scaphocaphaly, low-set ears, depressed nasal bridge, macroglossia, micrognathia, cardiac malformations, long fingers, clubfeet, and seizures. Ophthalmic features include hypertelorism, upward slanting and/or narrowing of the palpe-bral fissures, epicanthus, strabismus, cataracts, nystagmus, and colobomatous microphthalmia.44 176 196

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