Duplication 7q

Partial trisomy of the long arm of chromosome 7 in bands 2 to 3 causes pre- and postnatal growth retardation, delayed skeletal maturation including closure of the fontanelles, hypotonia, seizures, central nervous system malformations including hydrocephalus, hypoplasia of the corpus callosum, cerebral and cerebellar atrophy, and hypoplasia of the cerebellar vermis. Facial features include frontal bossing, depression of the nasal bridge, upturned nares, long philtrum, cleft palate, small mandible, dysplastic ears, and short neck and skeletal anomalies include scoliosis, hemivertebrae, absent ribs, joint laxity or stiffness, hip dislocation, camptodactyly, short midhands with a single transverse palmar crease, and long fingers and toes. Oph-thalmologic features include hypertelorism, downward slanting and/or narrow palpebral fissures, epicanthus, strabismus, absent lateral rectus muscles, "prominent eyes," long lashes, optic nerve hypoplasia, and colobomatous microphthalmia/anoph-


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