Familial partial trisomy of the long arm of chromosome 3 (3q)

Abstract

A case of partial trisomy of the long arm of chromosome 3 (3q21 leads to qter) is described. The clinical findings are compared with those in 5 previously reported cases. There is hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nostrils, hypertelorism, and palate abnormalities; occurring less often are abnormalities of vertebrae, thorax, and digits, or cardiovascular, urinogenital, and central nervous system. New features noted in this present case are absence of right eye from orbit and spina bifida. The spectrum of this syndrome is discussed, with possible relation to the degree of trisomy. The present case is the 6th to be reported with partial trisomy of the long arm of chromosome 3.