Chromosome 22 Ring

Common Name(s)

Chromosome 22 Ring, Ring 22

Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality, a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 22 Ring" for support, advocacy or research.

Chromosome 22 Central

Our mission is to provide support and information to families or individuals affected by disorders of chromosome 22.

Last Updated: 11 May 2014

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Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 21 Jul 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chromosome 22 Ring" for support, advocacy or research.

Chromosome 22 Central

Our mission is to provide support and information to families or individuals affected by disorders of chromosome 22.

http://www.c22c.org

Last Updated: 11 May 2014

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Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 21 Jul 2014

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General Support Organizations

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chromosome 22 Ring" returned 8 free, full-text research articles on human participants. First 3 results:

Pathogenesis of vestibular schwannoma in ring chromosome 22.
 

Author(s): Ellen Denayer, Hilde Brems, Paul de Cock, Gareth D Evans, Frank Van Calenbergh, Naomi Bowers, Raf Sciot, Maria Debiec-Rychter, Joris V Vermeesch, Jean-Pierre Fryns, Eric Legius

Journal:

 

Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. The pathogenesis of these tumours is not always clear yet.

Last Updated: 7 Oct 2009

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A case with a ring chromosome 22.
 

Author(s): Altuğ Koç, Kadri Karaer, Mehmet Ali Ergün, Meral Yirmibeş-Karaoğuz, Derya Kan, Ali Cansu, Ferda Perçin

Journal: Turk. J. Pediatr.. ;50(2):193-6.

 

Ring chromosome 22, a rare cytogenetic finding, was first described in 1968, and since then about 60 patients have been reported. We describe a new patient with ring chromosome 22 syndrome and discuss the common features of the previously reported cases. Our patient had the major ...

Last Updated: 30 Jul 2008

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Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome.
 

Author(s): P De Mas, N Chassaing, Y Chaix, M-C Vincent, S Julia, G Bourrouillou, P Calvas, E Bieth

Journal: J. Med. Genet.. 2002 Apr;39(4):e17.

 

Last Updated: 12 Apr 2002

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chromosome 22 Ring" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.