Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Figure 1

(a) GTG partial karyotype, only chromosomes 4 of heterozygote inversion carrier are shown (b) FISH on lymphocyte metaphases with tel4p and tel4q probes of heterozygote inversion carrier: tel4p probe signal (green) is located on the 4q subtelomeric region, while tel4q probe (red) shows a signal both on the subtelomeric 4q region and on the subtelomeric 4p region (low intensity) (c) FISH on amniocyte metaphase. The rec(4) (indicated by the arrow) shows the duplication of the tel4q probe signal (red) and the lack of the tel4p probe signal (green signal on normal chromosome). (d) WHS specific probe signal (red) is absent on rec(4), while CEP4 control probe signal (green) is shown on both chromosome 4 (e) Array-CGH of chromosome 4.