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

Clin Genet. 1995 Jan;47(1):17-21. doi: 10.1111/j.1399-0004.1995.tb03915.x.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 3*
  • DNA Transposable Elements*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Pedigree
  • Pre-Eclampsia / genetics*
  • Pregnancy
  • Recombination, Genetic*
  • Trisomy*

Substances

  • DNA Transposable Elements