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Maternal 3;13 chromosome insertion, with severe pre-eclampsia

P A Boyd1, E J Maher, R H Lindenbaum

  • 1Prenatal Diagnosis Unit, John Radcliffe Hospital, Headington, Oxford, UK.

Clinical Genetics
|January 1, 1995
PubMed

A previously healthy young primigravida suffered very severe pre-eclampsia and was delivered at 32 weeks gestation. The baby was growth retarded with dysmorphic features, and died aged 4 days. Chromosome analysis of the baby revealed partial trisomy 13 resulting from recombination within a maternal insertion of part of 13q into 3p. To date, the maternal insertion has been identified in a further three members of the family and may have contributed to a number of spontaneous abortions, stillbirths and neonatal deaths in other family members. The various possibilities for recombination and malsegregation are discussed. An association between pre-eclampsia and trisomy 13 has been reported previously. To our knowledge this present paper constitutes the first report of partial trisomy for 13q occurring with pre-eclampsia.

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