Figure 1.
Constitutional Neocentromeres
(A) Sites of constitutive neocentromere formation in the human genome. The known locations of neocentromeres are represented by bars aligned against the chromosome ideograms; black bars represent neocentromere formation on class I marker chromosomes, red bars represent neocentromere formation on class II marker chromosomes, green bars represent sites of centromere repositioning, and gray bars represent unknown chromosomal rearrangements. Adapted from Amor and Choo.75
(B) Neocentromere hotspots on 13q. Sites of neocentromere formation are shown in yellow within the length of the marker chromosomes, with markers grouped by neocentromere formation within cytogenetic bands. All reported neocentromere cases from chromosome 13 are illustrated: a–h are as described by Warburton et al;99 i, Morrissette et al.;100 j, Knegt et al.;16 k–m are cases 1–3, respectively, as described by Li et al.;101 n, Barwell et al.;102 o, Amor et al.;103 and p, Tonnies et al.104 Additional mapping data of a and j are from Cardone et al.34 and b, d, and g from Alonso et al.33 All marker chromosomes are inverted duplications (for the sake of simplicity, the inversion is not illustrated for these chromosomes), with the exception of two ring chromosomes designated “R.”