Duplication 3p21----3pter and cyclopia.
We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009915:Orbit / Q000002:abnormalities*