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We have identified a partial deletion of the short arm of chromosome 20 in a 5-year-old boy from parents having normal phenotype and karyotype. His major anomalies were mild mental retardation, congenital heart disease, chest deformity, spina bifida, kyphoscoliosis, inguinal hernia, and preauricular fistula. The clinical findings were compared with those of two patients reported previously as a partial deletion 20p.

A partial short arm deletion of chromosome 20∶46, XY, del(20)(p11)