Clinical characterization of a Korean case with 3p25 deletion

it difficult to accurately diagnose the syndrome in some cases. To date, only 3 cases of 3p trisomy with congenital anomalies have been reported in Korea [5-7], and there have been no reports of patients with 3p deletion syndrome, suggesting the rare incidence as well as under-recognition of this syndrome. In this report, we describe the case of a child with the typical features of de novo 3p deletion syndrome resulting from partial monosomy for the distal part of the short arm of chromosome 3.