Antenatal diagnosis of a de novo reciprocal translocation 46,XX,t(3;7)(q21;q11).
A de novo reciprocal translocation 46,XX,t(3;7)(q21;q11), detected at amniocentesis performed because of advanced maternal age, is presented. Both parents showed a normal karyotype. The girl was delivered and has shown no phenotypic abnormality in the first year after birth. Problems encountered with the prediction of the fetal outcome in balanced structural rearrangements are discussed.
D000649:Amniocentesis; D002871:Chromosome Banding; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011296:Prenatal Diagnosis / Q000379:methods*; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014178:Translocation, Genetic