16
Aug
13q34 deletions and the role of genes SOX1 and ARHGEF7
0 Comment
13q34 deletions – or deletions at the terminal segment of the long arm of chromosome 13 – are very rare. Therefore, symptoms of 13q34 deletions are not well described. This article reports two brothers with 13q34 deletions, whose symptoms include intellectual disability, epilepsy, and genitourinary tract defects. From these cases,... Read More
15
Aug
Chromosome 14q 32, the DICER1 gene and elevated cancer risk
The DICER1 gene is located in the 14q32 region within the long arm of chromosome 14. It encodes for a protein responsible for regulating numerous other genes during development. When DICER1 is lost due to mutation or deletion, this regulation is disrupted, resulting in elevated cancer probability. Because of this,... Read More
