A recurrent translocation is mediated by homologous recombination between HERV-H elements.

ABSTRACT:

Background

Chromosome rearrangements are caused by many mutational mechanisms; of these, recurrent rearrangements can be particularly informative for teasing apart DNA sequence-specific factors. Some recurrent translocations are mediated by homologous recombination between large blocks of segmental duplications on different chromosomes. Here we describe a recurrent unbalanced translocation casued by recombination between shorter homologous regions on chromosomes 4 and 18 in two unrelated children with intellectual disability.

Results

Array CGH resolved the breakpoints of the 6.97-Megabase (Mb) loss of 18q and the 7.30-Mb gain of 4q. Sequencing across the translocation breakpoints revealed that both translocations occurred between 92%-identical human endogenous retrovirus (HE

SUBMITTER: Hermetz KE 

PROVIDER: S-EPMC3292815 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature