A de novo deletion 7q11 leads to q21.2 was identified in a newborn with genital and other minor clinical abnormalities and some degree of psychomotor retardation. A review of the literature revealed a number of cases of deletion 7q, which can be categorized into three groups according to their breakpoints. Attempts to correlate phenotype with genotype in these cases have been only moderately successful, and as yet only deletion 7q32 leads to qter can be associated with a definite clinical syndrome, although a tentative syndrome may be postulated in association with deletion of region 7q22 leads to 7q31.