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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D007621:Karyotyping; D011247:Pregnancy