Abstract
A complex chromosome rearrangement, apparently a balanced translocation involving #4, #6, #15 and #16 chromosomes, 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 counseled for the prenatal diagnosis of this de novo complex translocation and, subsequently, they decided to terminate the pregnancy. Postmortem examination revealed a 23-week fetus with intrauterine growth retardation and some facial dysmorphism. The identical chromosome rearrangement was found in cultured fibroblasts from skin and cord obtained from the abortus.
Eleven reported cases of complex chromosome rearrangements were reviewed, 6 were found to be de novo in origin and all were ascertained because of an abnormal phenotype. To our knowledge, this is the first case ever reported as a prenatal diagnosis involving 4 or more chromosomes. There are clinical and counseling implications of prenatal diagnosis of an apparently balanced, but de novo complex chromosome rearrangement.
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Kim, H., Bogosian, V., Perle, M. et al. PRENATAL DIAGNOSIS OF A DE NOVO COMPLEX CHROMOSOME REARRANGEMENT AND POSTNATAL CONFIRMATION IN ABORTUS WITH INTRAUTERINE GROWTH RETARDATION. Pediatr Res 18 (Suppl 4), 222 (1984). https://doi.org/10.1203/00006450-198404001-00776
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DOI: https://doi.org/10.1203/00006450-198404001-00776
