The significance of pericentric inversions of chromosome 2.
Thirteen new cases of a pericentric inversion 2 collected from different laboratories are reported. In addition 41 cases of a pericentric inversion 2 were reviewed from the literature. The pooled data were analysed using Weinberg's proband method to evaluate the risk of a carrier for either children with congenital anomalies or reproductive wastage. In the "corrected" sample of 166 lifeborn offspring of carriers of a pericentric inversion 2 there were five who showed phenotypic anomalies and two died a few hours after delivery. The reported anomalies are heterogeneous and probably reflect the basic risk of any couple for abnormal lifeborn offspring. There has been no observation of a lifeborn who inherited an unbalanced recombination of a parental pericentric inversion 2. A carrier of a pericentric inversion 2 obviously has an increased risk for reproductive wastage. This is indicated by (1) an increase of the rate of spontaneous abortions and (2) an increase of the rate of index patients ascertained because of previous miscarriages. The risk of a carrier of a pericentric inversion 2 for a spontaneous abortion or a stillbirth may be about twice the basic risk of the general population.
D000022:Abortion, Spontaneous / Q000235:genetics; D000328:Adult; D002503:Centromere; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002875:Chromosomes; D002900:Chromosomes, Human, 1-3; D005260:Female; D005313:Fetal Death / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D012306:Risk