It is reported the case of a child of 9 months of age, who at the time of born, displayed multiple malformations and extensive hypotonia. The cytogenetical analysis revealed a intersticial deletion of the long arm of chromosome 2, karyotype: 46, XY, del(2)(q31,q33). The abnormality was detected by performing chromosomal studies on peripheral blood, with conventional staining techniques. In order to associate the phenotype of the patient with others reported previously, an extensive bibliographic search was performed