American Journal of Medical Genetics 62:lO-15 (1996) Distinct 15q Genotypes in Russell-Silver and Ring 15 Syndromes

Individuals with a ring 15 chromosome [r ( 15)] and those with Russell-Silver syn-drome have short stature, developmental delay, triangular face, and clinodactyly. To assess whether the apparent phenotypic overlap of these conditions reflects a com-mon genetic cause, the extent of deletions in chromosome 15q was determined in 5 pa-tients with r(15), l patient with del 15q26.lqteq and 5 patients with Russell-Silver syndrome. All patients with Russell-Silver syndrome were diploid for genetic markers in distal 15q, indicating that Rus-sell-Silver syndrome in these individuals was unlikely to be related to the expressio