Ring chromosome 22
Other Names for this Disease
- Chromosome 22 ring
- Ring 22
Your QuestionMy 4-year-old son has been diagnosed with ring chromosome 22p12-q13. My son's doctors and I cannot find much information on it. I would appreciate if you could send me as much information as you might have. If there are support organizations, that would be helpful too.
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- How can I find a genetics professional in my area?
- Are there any advocacy organizations for individuals and families with ring chromosome 22?
- What are chromosomes?
- What is a ring chromosome?
- What is ring chromosome 22?
- What are the signs and symptoms of ring chromosome 22?
- What related research studies have there been for chromosome abnormalities that may be of interest?
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
The associated signs and symptoms depend largely on where the breakpoint occurs on chromosome 22 and how much genetic material has been lost on the long (p) arm. Genetic material lost on the short (p) arm is usually irrelevant and does not cause physical or intellectual features. The breakpoints on the long (q) arm can be difficult to determine; but in ring chromosome 22, they are most likely to happen somewhere in the terminal segment of the distal band 22q13.
In general, there is limited information on how chromosome abnormalities like ring chromosome 22 impact growth and development. Since each abnormality is usually so rare, there are few cases to learn from, let alone conduct research. It is generally difficult to say what the future will hold for affected individuals, because even when the chromosome abnormalities are similar, the health problems can vary widely.
Over 100 cases have been reported on ring chromosome 22. While there is no consistent clinical picture, frequent findings of ring chromosome 22 include developmental delay, moderate to severe learning difficulties or intellectual disabilities, small head, absent or delayed speech, hypotonia, unsteady manner of walking, hyperactivity, autistic behaviors, seizures, and growth delay. Some affected individuals may also have relatively mild, non-specific physical features, whereas others may have more distinctive, potentially severe physical abnormalities.
To locate information resulting from this completed study, you can either e-mail or call the National Library of Medicine (NLM) Customer Service. Include the title of the study, the study ID number, and the NLM Identifier, and a librarian at NLM can assist you in searching the medical literature for published results on the completed clinical trial.
National Library of Medicine Customer Service
- Chromosome Abnormalities. National Human Genome Research Institute Web site. 2007; http://www.genome.gov/11508982#6 . Accessed 7/11/2011.
- Chromosomes and Rare Chromosome Disorders in General. Unique. http://www.rarechromo.org/html/ChromosomesAndDisorders.asp/ . Accessed 7/11/2011.
- Ring 22. Unique. 2006; http://www.rarechromo.org/information/Chromosome%2022/Ring%2022%20FTNW.pdf. Accessed 7/11/2011.
- Albert Schinzel & Walter de Gruyter . Catalogue of Unbalanced Chromosome Aberrations in Man, 2nd ed.. New York: GmbH & Co.; 2001;
- Chromosome 22 ring. National Organization for Rare Disorders (NORD). . 2009; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/929/viewAbstract. Accessed 7/11/2011.