Deletion 12p

Deletion of the short arm of chromosome 12 causes moderate to severe developmental delay with microcephaly and characteristic facial features including a long-pointed nose, micro-gnathia, and low-set, large ears. Other manifestations include cryptorchidism and micropenis in males. Ophthalmic features include hypertelorism, epicanthus, downward sloping of the palpebral fissures, strabismus, synophrys, sclerocornea, optic atrophy, and probably glaucoma.28 178'282,296

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