The Turkish Journal of Pediatrics 2014 , Vol 56 , Num 3
The X Chromosome: Does It Have a Role in Bloom Syndrome, a Genomic Instability Disorder?
Division of Hematology, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey. E-mail:, 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. Keywords : Bloom syndrome, male dominance, autosomal recessive, X chromosome, genomic stability.
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