A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.

ABSTRACT:

Background

Inversions are balanced structural chromosome rearrangements, which can influence gene expression and the risk of unbalanced chromosome constitution in offspring. Many examples of inversion polymorphisms exist in human, affecting both heterochromatic regions and euchromatin.

Results

We describe a novel, 15 Mb long paracentric inversion, inv(21)(q21.1q22.11), affecting more than a third of human 21q. Despite of its length, the inversion cannot be detected using karyotyping due to similar band patterns on the normal and inverted chromosomes, and is therefore likely to escape attention. Its identification was aided by the repeated observation of the same pair of 150 kb long duplications present in cis on chromosome 21 in three Czech families subjected to microarray a

SUBMITTER: Drabova J 

PROVIDER: S-EPMC4236861 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature