Trisomy 8 Syndrome

In 1970 we reported the case of a 2-month-old boy with a C autosomal trisomy and euploid mosaicism, and suggested, by comparison with other cases, that this chromosome imbalance might result in a definite syndrome. It has now been determined by Giemsa banding studies that the trisomy which is present involves a number 8 member, and a follow-up of this case is presented. In addition, a review of all published cases of authenticated trisomy 8 suggests that this specific anomaly leads to a distinct clinical syndrome involving mild psychomotor retardation, bone and joint anomalies, and other visceral defects. The condition is benign in comparison with other autosomal trisomies.