Reproductive outcomes of paracentric inversion carriers: report of a liveborn dicentric recombinant and literature review.
An abnormal infant had a dicentric chromosome 14 with an inverted tandem duplication [46,XY,inv dup(14) (pter----q32.3::q24.2----pter)], thus making him trisomic for the proximal two-thirds of chromosome 14. This abnormality was derived from a maternal paracentric inversion in chromosome 14 [46,XX,inv(14)(q24.2q32.3)]. To our knowledge, this is the first report of a liveborn infant carrying a stable, dicentric product of crossing over within a paracentric inversion loop. A review of the reproductive outcomes of paracentric inversion carriers in the literature suggests that they are at some risk for pregnancy wastage. The risk for liveborn recombinants is small but such births have occurred, at least to female carriers.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002901:Chromosomes, Human, 13-15; D003434:Crossing Over, Genetic; D005260:Female; D006554:Hernia, Umbilical / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008844:Micrognathism / Q000235:genetics; D008850:Microphthalmos / Q000235:genetics; D010375:Pedigree; D011995:Recombination, Genetic; D012306:Risk