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of trisomy 10p are severe mental and growth retardation, craniofacial anomalies (high forehead, hypertelorism, upward slant of the palpebral fissures, and cleft lip and palate), and other organ malformations (cardiac and renal anomaly) and skeletal abnormalities (clubfoot and flexion abnormalities). Since Lewandowsky et al. [7] reported the deletion in the long arm of chromosome 10, over 60 cases of interstitial or terminal 10q deletion ranging from 10q23-q26 resulting from familial translocations or other chromosomal anomalies have been identified. The main clinical manifestations of terminal deletion of 10q syndrome are typical facial dysmorphisms, mental and An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea