Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14) (p11;p11)

Abstract

A boy with trisomy of the short arm of chromosome 7 is reported. He presented several congenital malformations, such as dolicocephaly, wide fontanelle, hypertelorism, antimongoloid slanting of the palpebral fissures, small, car-shaped mouth, thin neck, extrinsic compression of the esophagus, congenital dislocation of the shoulders and hips and a possible cardiac defect. The proband''s mother had a balanced translocation involving the short arm of chromosomes 7 and 14. In this family the translocation was transmitted through 3 generations.