Monosomy Syndromes Monosomy

Complete or partial deletion of chromosome 21 causes prenatal growth retardation and craniofacial anomalies including microcephaly, prominent nose, downturned corners of the mouth, micrognathia, and cleft lip and/or palate. Death results from recurrent respiratory infections and gastrointestinal illness. Ophthalmic features include epicanthus, downward slanting of the palpebral fissures, Peters' anomaly of the anterior segment, cataracts, and microphthalmia.107,263,291,392

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