Interstitial deletion of the short arm of chromosome 10: Report of a case and review of the literature

Abstract

The fifth patient with an interstitial deletion of the short arm of chromosome 10 is described. She showed most of the features observed in other known patients at age 20, including psychomotor retardation, distinct facial dysmorphism, abnormally shaped skull and cardiac malformation, while she did not show any growth retardation. The elevation of serum IgG level was observed from age 15, but she did not show DiGeorge syndrome. These differences would be explained by the differences in the amount of deleted segments using high resolution chromosome banding and molecular methods.