The clinical manifestations and cytogenetic details of five patients with a de novo deletion of the short arm of chromosome 8, del(8)(p23), are described. Of the four surviving children all had mild mental retardation and subtle facial anomalies; three of the five had cardiac abnormalities. The clinical features seen in these patients are compared with those of three previous single case reports with del(8)(p23), and with patients described as having the '8p -' syndrome associated with del(8)(p21).The findings in these patients suggest that major congenital anomalies, especially congenital heart defects, are frequent even in small distal 8p deletions, but facial dysmorphism may be subtle and mental retardation less severe than in those with deletions associated with more proximal breakpoints.The five patients were detected within a four year period, suggesting that this deletion syndrome is relatively frequent. The possible mechanisms for the formation of terminal deletions are discussed.An '8p -'syndrome has been described associated with partial deletion of the short arm of chromosome 8, del (8) months, walked at 15 months, and has persisting fine motor and coordination problems. She rarely vocalised in infancy, produced her first recognisable word after the age of 2 years and at 8 years had limited speech abilities but could conduct simple conversations. She had a left convergent strabismus associated with hypermetropia which improved with corrective lenses. Pubic hair was noted from the age of 7 years, attributed to premature adrenarche. She is described as affectionate, extremely active and distractable, easily frustrated, and sometimes aggressive.On examination at the age of 8 years 7 months her OFC was 52 cm (50th centile), height 134-5 cm (90th centile), and weight 433 kg (>97th centile). Her face was round, with broad cheeks and a relatively narrow forehead. Her palpebral fissures were slightly upward slanting, her eyelashes were long, and she had prominent eyebrows. Her nasal bridge was high, her nose small, and the upper lip was thin and tented. Her hands were small with tapered, pudgy fingers and her feet were short and broad. Tanner stage 2 pubic hair was present, but there were no other signs of Figure 1 Case I at 8 years of age: note broad cheeks, high nasal bridge, and puffy tapering fingers.