Ring Chromosome 22

Phelan-McDermid Syndrome (PMS)

Individuals who are born with Ring Chromosome 22 and may also develop NF2 tumors due to the damage to the 22nd chromosome.

Other Names

Chromosome Ring 22, Ring Chromosome 22, r(22), Ring 22

About Ring Chromosome 22

The development of Ring Chromosome 22, occurs when there is a break in Chromosome 22 and the genes within the chromosome form a ring, by breaking into two sections and reforming together. Brakes in Chromosome 22 can happen at different points and could determine what issues an individual might face.

If a break occurs near the NF2 gene, it is possible for an individual with Ring Chromosome 22 will also develop NF2.

The occurrence is completely random, not affecting people in any part of the world or race any more frequently than others.

Common Issues

• Autistic-like Behavior
• Learning Disabilities - Mild to Severe
• Physical Abnormalities - Mild to Severe
• Poor Muscle Strength
• Speech or Communication Difficulty

References

• Zirn, B., et al. "Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma." Clinical genetics 81.1 (2012): 82-87. http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2010.01598.x/full