Maternal 3;13 chromosome insertion, with severe pre-eclampsia.
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.
Boyd
P A
PA
Prenatal Diagnosis Unit, John Radcliffe Hospital, Headington, Oxford, UK.
Maher
E J
EJ
Lindenbaum
R H
RH
Hoogwerf
A M
AM
Redman
C
C
Crocker
M
M
D000328:Adult; D002882:Chromosomes, Human, Pair 13; D002893:Chromosomes, Human, Pair 3; D004251:DNA Transposable Elements; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010375:Pedigree; D011225:Pre-Eclampsia / Q000235:genetics*; D011247:Pregnancy; D011995:Recombination, Genetic; D014314:Trisomy
D004251:DNA Transposable Elements