Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes

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Abstract
A complex chromosome rearrangement, apparently a balanced translocation involving chromosomes 4,6, 15 and 16, was found in cultured cells of amniotic fluid from a 32–year‐old primigravida who requested amniocentesis for prenatal diagnosis because of a family history of mental retardation. Chromosome analysis of peripheral blood from both parents were normal. The couple was counselled for the prenatal diagnosis of this de novo complex translocation and, subsequently, elected to terminate the pregnancy. Post‐mortem examination revealed a 23–week fetus with intrauterine growth retardation. The identical chromosome rearrangement was subsequently confirmed in cultured fibroblasts from skin and cord obtained from the abortus. To our knowledge, this is the first report where routine prenatal diagnosis revealed a fetus with a balanced complex chromosomal rearrangement involving four chromosomes of de novo origin.