General overview of the 1q21.1 region
Deletions and duplications in the 1q21.1 region (on chromosome 1) are frequent with a prevalence of 1 over 1000 in the general population.
There are different breakpoints (BP) in the 1q21.1 region which result into different rearrangements. Three different deletions can happen and result in different manifestations according to the rearrangement. TAR region deletion is the most proximal. At the distal region, 1q21.1 deletion extends on 1.3 megabases and correspond to class 1 deletion. Finally, there is the class 2 deletion which includes the distal deletion and the TAR deletion.
Notes that little is know about the disease and this is why it's very important for studies to understand how this region can cause difficulties for some individuals carrying a certain rearrangement, and save others with the opposite one.
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