Duplication 2p

Partial trisomy of the short arm of chromosome 2 is characterized by craniofacial features including microcephaly, a prominent forehead and/or glabella, short nose with a broad bridge and prominent tip, high-arched palate, micrognathia, pointed chin, and low-set and dysplastic ears; cardiac and genitourinary malformations and skeletal or digital anomalies may be present. Ophthalmic features include hypertelorism, epicanthus, strabismus, narrow palpebral fissures, blepharoptosis and ble-pharophimosis, nasolacrimal duct obstruction, cataract, retinal detachment and dysplasia, tortuosity of the retinal vessels, optic atrophy, persistent hyperplastic primary vitreous, and microphthalmia.147,219,274,409

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