Isodicentric chromosome 15 syndrome

Title

Other Names:

Duplication/inversion 15q11; Inv dup(15); Non-distal tetrasomy 15q; Duplication/inversion 15q11; Inv dup(15); Non-distal tetrasomy 15q; Non-telomeric tetrasomy 15q; Idic(15); Tetrasomy 15q; Chromosome 15q tetrasomy; Inverted duplication 15 See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures.^[1]^[2] Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition.^[3]^[1] Treatment is based on the signs and symptoms present in each person.^[1]

Last updated: 1/21/2016

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Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Chromosome Disorder Outreach
PO Box 724
Boca Raton, FL 33429
Telephone: 561-395-4252
E-mail: info@chromodisorder.org
Website: http://www.chromodisorder.org
Dup15q Alliance
P.O. Box 674
Fayetteville, NY 13066
Telephone: 855-dup-15qa
E-mail: info@dup15q.org
Website: http://www.dup15q.org/
IDIC15 Canada
Canada
Telephone: 250-320-5877 or 778-989-1210
E-mail: info@idic15canada.ca
Website: http://www.idic15canada.ca/
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: http://www.rarechromo.org

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Isodicentric chromosome 15 syndrome. This website is maintained by the National Library of Medicine.
Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about Isodicentric chromosome 15 syndrome.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Isodicentric chromosome 15 syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
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August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

Related Diseases Related Diseases

The following diseases are related to Isodicentric chromosome 15 syndrome. If you have a question about any of these diseases, you can contact GARD.

Chromosome 15q duplication

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References References

Idic(15). Unique. 2014; http://www.rarechromo.org/information/Chromosome%2015/Idic%2815%29%20FTNW.pdf.
Rim JH, Chung HJ, Shin S, Park SJ, Choi JR. Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots. Ann Lab Med. July 2015; 35(4):474-476.
Isodicentric chromosome 15 syndrome. Genetics Home Reference. September 2012; http://ghr.nlm.nih.gov/condition/isodicentric-chromosome-15-syndrome.

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