Deletion of the proximal long arm of chromosome 3 in an infant with features of Turner syndrome

Abstract

A case of deletion of the proximal one-fourth of chromosome 3 long arm is described. While the Turner syndrome phenotype was present neonatally, the patient has no structural or numerical abnormality of the sex chromosomes, and thus may represent an autosomal deletion with a clinical picture similar to Turner syndrome. Her score on the Noonan syndrome index of Duncan et al. (1981) is 27%, making Noonan syndrome unlikely.