A previously healthy young primigravida suffered very severe pre-eclam
psia and was delivered at 32 weeks gestation. The baby was growth reta
rded with dysmorphic features, and died aged 4 days. Chromosome analys
is of the baby revealed partial trisomy 13 resulting from recombinatio
n within a maternal insertion of part of 13q into 3p. To date, the mat
ernal 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 p
ossibilities for recombination and malsegregation are discussed. An as
sociation between pre-eclampsia and trisomy 13 has been reported previ
ously. To our knowledge this present paper constitutes the first repor
t of partial trisomy for 13q occurring with pre-eclampsia.