Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation.
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.
D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging / Q000235:genetics*; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D003315:Cornea / Q000002:abnormalities*; D005704:Gallbladder / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011859:Radiography; D014178:Translocation, Genetic