Cyclopia as a result of an unbalanced familial translocation, rcp(7;18)(q34;q21)
One fetus is described with cyclopia and associated abnormalities as a result of an unbalanced translocation involving chromosomes 7 and 18 [46XX,del 7, rcp(7;18)(q34;21)]. The parents had had a previous infant described as having possible holoprosencephaly, but no medical records were available to substantiate this description.
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D014178:Translocation, Genetic