Recombinant chromosome 18 in two offspring of a chromosome 18 inversion heterozygote.
A case of partial trisomy of chromosome 18 due to a recombinant pericentric inversion is described. Prenatal diagnosis in a subsequent pregnancy identified a foetus with the recombinant chromosome 18, and the pregnancy was terminated. A comparison is made between the risks reported in the relevant literature where recombinant offspring have resulted from chromosome 18 inversion heterozygotes and those observed in this case.
D000015:Abnormalities, Multiple / Q000235:genetics; D000649:Amniocentesis; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D005260:Female; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011995:Recombination, Genetic