Fig. 1.

(A) Pedigree of family carrying PD-NC4, first detected in III:2. Haplotype bars derived from the microsatellite linkage screen indicate that the allele containing the neocentromere (black bar) was derived from the paternal grandfather (I:1) of the proband. (B) The PD-NC4 (Left) and normal chromosome 4 (Right) from G-banded karyotype of individual III:2. The primary constriction has relocated to 4q21.3 without any change in banding pattern. (C) BAC probes used to characterize the PD-NC4 neocentromere (NC) (Left) and alphoid centromere (Right). The neocentromere domain was defined by combined immunofluorescence and FISH to a region of 1.5 Mb bordered by BACs RP11–209g6 and RP11–204i22 (see also Fig. 2D). All 12 BACs flanking the alphoid centromere hybridized with equal intensity to the PD-NC4 and the normal chromosome 4, excluding a deletion of these regions.