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, carp-shaped mouth; thin neck; extrinsic compression of the oesophagus; 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 has been transmitted through three generations.