One region, three disorders. The following blogpost serves as a partner to this week’s earlier post on the genomic idiosyncrasies of the 15q11-13 region. We hope that the discussion of the clinical aspects of disorders rooted in this region will further illustrate the vast complexity of the genome. Below we describe the three clinical syndromes associated with this region.
Tag Archives: chromosome 15
Chromosome 15q11-13: one region, many disorders
Cytogenetics. 15q11-13 can be an intimidating region, even for many seasoned genetics professionals. Several factors contribute to this, including a complex genomic architecture, genomic imprinting, an acrocentric chromosome, and several genes critical to neurological function. For today’s blog post, we’ll try to unravel some of its complexity to make interpretation of copy number variants (CNVs) in this area clearer.