Abstract
The Bloom syndrome, caused by mutations in a single gene [BLM (15q26.1)], is a rare genomic instability syndrome. Despite its autosomal recessive transmission, it shows a male dominance, suggesting the possibility of a subgroup with X-linked recessive inheritance. In view of the latest molecular developments achieved in the other genomic instability syndromes, the potential functions of the X chromosome in maintaining genomic stability, and particularly, the first clues of Bloom syndrome development by mechanisms other than the BLM, we suggest herein that the X chromosome should be investigated in Bloom syndrome.
How to cite
1.
Aslan D. The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder?. Turk J Pediatr 2014; 56: 327-329. https://doi.org/10.24953/turkjped.2014.1376