Fig. 1.

Chr21 diagram showing APPdup regions with respect to genes. APP duplications in 5 probands. Single nucleotide polymorphism (SNP) start and end positions for these duplications are included in the supplementary data. Black horizontal bars indicate the extent of heterozygous duplications. Minimal sizes (in parenthesis) of previously reported duplications are indicated by gray horizontal bars and the intervals of the duplication boundaries by dotted lines. Gene content excludes pseudogenes and open reading frames. The transcription start site of genes are indicated by vertical bars. Proband 1 has a partial duplication of NCAM2 and proband 2 has a full duplication of this gene.