Molecular characteristics

There are different ways changes in our genes might cause SATB2-associated syndrome (SAS). These include: contiguous large deletions (pieces missing that include SATB2 as well as other genes nearby), intragenic deletions (pieces missing of just SATB2), large duplications (pieces extra that include SATB2 as well as other genes), intragenic duplications (pieces extra of just SATB2), translocations (chromosome abnormality caused by rearrangement of parts between chromosomes) that include SATB2, and mutations (misspellings). For additional information see attached document.