Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation

Abstract

This paper describes a newborn with a number of clinical manifestations compatible with duplication 16p due to a 46, XY, −7, +der (7), t(7;16) (p22;p13) pat karyotype. In addition, the baby had chondrodysplasia punctata, whose distribution of lesions did not match any of the well‐documented forms of these disorders. The baby also had microcornea and lacked a gallbladder, two features, in addition to chondrodysplasia punctata, that have not previously been noted in cases of duplication 16p.