Prenatal diagnosis of a dup(3p) with holoprosencephaly.
The prenatal diagnosis of dup(3p) was made in a female conceptus, the father being a known carrier of a balanced translocation t(3;10)(p21;q26). Interruption of pregnancy at 19 weeks showed a fetus with a holoprosencephaly field defect. Two other cases of dup(3p) have been observed in the same family. The malformations were different in each of the 3 patients, suggesting a considerable degree of variability of dup(3p).
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations; D002893:Chromosomes, Human, Pair 3; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis