De novo partial 2p duplication with postmortem description

An unbalanced karyotype most likely consisting of a partial duplication of the short arm of chromosome 2 (p13 leads to pter) was found in a newborn infant with intrauterine growth retardation, facial, skeletal, and cardiac abnormalities. There was no evidence of a translocation in either parent. At autopsy, striking histopathologic abnormalities were detected in the central nervous system and ovaries.