The significance of pericentric inversions of chromosome 2

Abstract

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.

The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary

“…This hypothesis obtains Analysis of human chromosome 2 with a DNA microlibrary support from chromosome polymorphisms still found in human populations. In about 0.1% of humans a pericentric inversion is found on chromosome 2 involving the segment 2pll-2q13, which is close to the assumed breakpoints of the pericentric inversion assumed in primate homologs (for review see Djalali et al 1986). In Sephardic Jews this inversion has a frequency of 0.8% and even homozygofic carriers with- .…”

Transposition of human immunoglobulin V kappa genes within the same chromosome and the mechanism of their amplification.

“…Concluding remarks Pericentric inversions of chromosome 2 involving the chromosomal segments 2pl -2q13 are observed by cytogenetic methods in about 0.1 % of today's population (Djalali et al, 1986 and earlier literature). Also, de novo inversions have been observed at chromosome 2 (Vejerslev and Friedrich, 1984), indicating that the inversion is a spontaneous event.…”

Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes

“…A pericentric inversion involving band 2p11 → 2q13 is observed in 0.1 % of the general population (Djalali et al, 1986), and also occurs as a "de novo" event. It is plausible that extensive sequence homologies can promote inversion phenomena and that these sequences may add instability to this region, also containing telomere-like repeats, a remnant of the fusion between the two human chromosome 2 ancestors present in great apes (Ijdo et al, 1991).…”