Familial paracentric inversion inv(2)(q31q36).
A paracentric inversion of chromosome 2 is described for the first time. The breakpoints were localized in the bands q31 and q36. The paracentric inversion was initially identified in a female with repeated abortions and thereafter detected in eight other family members over three generations. The meiotic consequences and the risk for liveborn unbalanced chromosomal recombinants is discussed.
D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D012306:Risk