Cause

The cause of this mutation lives within the 22^nd chromosome. For starters, individuals who do not have CES have two 22^nd chromosomes. Both chromosomes have a long arm known as 22q and a short arm know as 22p. However, the 22^nd chromosome for individuals who do have CES also have the 22p present along with the short region of the 22q three or four times instead of just twice (NORD, 2010). The extra 22 chromosome usually comes from one of the parents (Bissonnette & Dalens, 2006), making this an inherited gene which is present at birth (Nicks, 2011). (Please refer to table one in Appendix A for a more detailed layout of the 22^nd chromosome.) “Treatment is given according to the symptoms the individual is diagnosed with. Doctors recommend surgery to repair inborn defects in the heart or anus. Patients with short stature are given growth hormone therapy” (Nicks, 2011, pg1).