The enigmatic deletion. Amongst the various microdeletions implicated in human epilepsy, the 16q13.11 microdeletion is one of the structural variations that poses significant difficulties in understanding its associated risk and phenotypes. Now a recent paper in PLOS One investigates a large cohort of patients with various neurodevelopmental disorders for microdeletions in the 16p13.11 region. And particularly the finding regarding the sex distribution of symptomatic deletion carriers is remarkable. Continue reading
Tag Archives: multiple congenital anomalies
A microscopic look at the 16p13.11 microdeletion
The patchwork chromosome. The human genome is a puzzle of duplications, duplications-within-duplications and more complex rearrangements.. Some of these duplications can misalign at meiosis and generate microdeletions and microduplications. The duplication architecture of the human genome is more pronounced in some chromosomes than in others. Chromosomes 15 and 16 are particularly rich in duplications, which is the reason several syndrome-associated microdeletions and microduplications are found there. One of these microdeletions is the 16p13.11 microdeletion. As a recent paper has looked as histological findings in brain tissue of patients with these deletions, it is time to review the only established genetic risk factor that contributes to wide range of epilepsy syndromes. Continue reading
