Figure 4

Graphical adaptation of BLAST alignments of four regions associated with chromosomal rearrangements producing genomic disorders. The approximate locations of primary genes associated with the respective diseases are indicated with a black bar. (a) Williams-Beuren syndrome (WBS) region at 7q11 containing inversion polymorphism with the elastin (ELN) gene located as indicated [17] (b) The palindromic segmental duplication (PSD) region on chromosome 15q11-q13, inverted in 4.5 per cent of the chromosomes in the general population [18] and often deleted in patients with Angelman syndrome (AS). The location of the ubiquitin protein ligase e3a (UBE3A) gene is indicated. (c) The region at chromosome 5q35 surrounding the NSD1 gene is frequently deleted in Japanese patients with Sotos syndrome and is characterised by a PSD. (d) The largest PSD region of the human genome is located in the AZFc region on the Y chromosome, featuring massive palindromes with minimal internal spacing. This region is known to harbour recurrent deletions and a deletion polymorphism that both may be associated with spermatogenic failure in infertile men.[21, 33]