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  • Duplication of a portion of the short arm of chromosome 10 combined with deletion of the long arm of chromosome 10. Clinical manifestations are similar to those seen in patients with chromosome 10p duplication and chromosome 10q deletion syndromes. The most frequently occurring defects include central nervous system disorders (hypotonia, poor feeding, and mental retardation), cranial anomalies (microcephaly, dolichocephaly, retrognathia, wide sutures, frontal bossing, cleft lip and palate, and nose malformations), skeletal deformities (clinodactyly, camptodactyly, and clubfoot), urogenital anomalies, and cardiac defects.
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