Duplication 2q

Partial trisomy of the long arm of chromosome 2 is rare and characterized by growth retardation, microcephaly, a square facies, prominent glabella, micrognathia, cleft palate, cardiac malformations, and genitourinary malformations. Ophthalmic features include epicanthus, hypertelorism, up- or downward slanting of the palpebral fissures, strabismus, blepharitis, micro-cornea, anomalies of the anterior chamber angle, congenital glaucoma, dislocated lenses, macular hypoplasia with nystagmus, optic atrophy or optic nerve dysplasia, and colobomatous microphthalmia.61,219,234,341,406

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