For example, a duplication-triplication-inversion-duplication was found at the MECP2 and PLP1 loci in individuals with MECP2 duplication syndrome or Lubs syndrome (MIM: 300260) and Pelizaeus-Merzbacher disease (MIM: 312080) [5, 6], and a duplication-inversion-terminal deletion of chromosome 13 was present in foetuses with 13q deletion syndrome [7], among others [8–10]. Here, MECP2 is linked to Down syndrome.