Duplication 11q

Individuals with duplication of the long arm of chromosome 11 have growth retardation, microcephaly with hypoplasia or aplasia of the corpus callosum, and facial dysmorphism including a short nose, long philtrum, micrognathia, low-set ears, and a high-arched palate or cleft palate. Some individuals have an unusual malformation of the clavicle; other features include cardiac or urinary malformations, cutis laxa, and neural tube defects. Ophthalmic features include hypo- or hypertelorism, epicanthus, downward slanting of the palpebral fissures, strabismus, conical corneal shape, and eccentric pupils.68,144,270

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