Microduplication 22q11 Syndrome

Common Name(s)

Microduplication 22q11 Syndrome

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Microduplication 22q11 Syndrome" 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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The Dempster Family Foundation

Dedicated to improving the quality of life for those affected by 22q11.2 Deletion Syndrome. We do this through partnerships that positively impact the growing community of 22q families around the world in areas of awareness, research, family support networks, and education.

Last Updated: 5 May 2014

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Microduplication 22q11 Syndrome" 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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The Dempster Family Foundation

Dedicated to improving the quality of life for those affected by 22q11.2 Deletion Syndrome. We do this through partnerships that positively impact the growing community of 22q families around the world in areas of awareness, research, family support networks, and education.

http://www.DempsterFoundation.org

Last Updated: 5 May 2014

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General Support Organizations

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General Resources

22Q University Video Library

http://dempsterfamilyfoundation.org/videos/44

Updated 5 May 2014

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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 "Microduplication 22q11 Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Microduplication and triplication of 22q11.2: a highly variable syndrome.
 

Author(s): Twila M Yobb, Martin J Somerville, Lionel Willatt, Helen V Firth, Karen Harrison, Jennifer MacKenzie, Natasha Gallo, Bernice E Morrow, Lisa G Shaffer, Melanie Babcock, Judy Chernos, Francois Bernier, Kathy Sprysak, Jesse Christiansen, Shelagh Haase, Basil Elyas, Margaret Lilley, Steven Bamforth, Heather E McDermid

Journal: Am. J. Hum. Genet.. 2005 May;76(5):865-76.

 

22q11.2 microduplications of a 3-Mb region surrounded by low-copy repeats should be, theoretically, as frequent as the deletions of this region; however, few microduplications have been reported. We show that the phenotype of these patients with microduplications is extremely diverse, ...

Last Updated: 4 Apr 2005

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Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
 

Author(s): Regina E Ensenauer, Adewale Adeyinka, Heather C Flynn, Virginia V Michels, Noralane M Lindor, D Brian Dawson, Erik C Thorland, Cindy Pham Lorentz, Jennifer L Goldstein, Marie T McDonald, Wendy E Smith, Elba Simon-Fayard, Alan A Alexander, Anita S Kulharya, Rhett P Ketterling, Robin D Clark, Syed M Jalal

Journal: Am. J. Hum. Genet.. 2003 Nov;73(5):1027-40.

 

Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome (DG/VCFS) is a common disorder resulting from microdeletion within the same band. Although both deletion and duplication are ...

Last Updated: 23 Oct 2003

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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 "Microduplication 22q11 Syndrome" 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.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.