Duplication 13q

Partial duplication of the long arm of chromosome 13 causes mental and growth retardation with microcephaly; facial features include frontal bossing, long philtrum, dysplastic ears, stubby nose, and high arched palate; additional features include polydactyly, and genital abnormalities in males. Ophthalmic manifestations include hypo- or hypertelorism, epicanthus, up- or downward slanting of the palpebral fissures, strabismus, blepharoptosis, long lashes, synophrys, sphero-phakia, and colobomatous microphthalmia. The frequency of the specific anomalies is a function of the trisomic region 30,85,132,233,244,261,310,349,397

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