MATERNAL 3-13-CHROMOSOME INSERTION, WITH 3 SEVERE PREECLAMPSIA

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.