8p23.1 Duplication Syndrome

Common Name(s)

8p23.1 Duplication Syndrome

8p23.1 duplication syndrome is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. This can cause birth defects such as heart problems, as well as speech delays and behavioral problems. Although there is currently no cure for 8p23.1 duplication syndrome, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care for families affected by 8p23.1 duplication syndrome. This condition appears about once in 64,000 births.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "8p23.1 Duplication Syndrome" for support, advocacy or research.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "8p23.1 Duplication Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 "8p23.1 Duplication Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.
 

Author(s): John C K Barber, Viv K Maloney, Shuwen Huang, David J Bunyan, Lara Cresswell, Esther Kinning, Anna Benson, Tim Cheetham, Jonathan Wyllie, Sally Ann Lynch, Simon Zwolinski, Laura Prescott, Yanick Crow, Rob Morgan, Emma Hobson

Journal: Eur. J. Hum. Genet.. 2008 Jan;16(1):18-27.

 

The 8p23.1 deletion syndrome is established but not an equivalent duplication syndrome. Here, we report five patients; a de novo prenatal case and two families in which 8p23.1 duplications have been directly transmitted from mothers to children. Dual-colour fluorescent in situ hybridisation, ...

Last Updated: 13 Dec 2007

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BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome.
 

Author(s): Kendra W Kimberley, Colleen A Morris, Holly H Hobart

Journal:

 

Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct facial characteristics resembling the Kabuki actor's make-up, cleft or high-arched palate, brachydactyly, ...

Last Updated: 24 Jul 2006

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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 "8p23.1 Duplication Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
 

Author(s): Damien Sanlaville, David Genevieve, Céline Bernardin, Jeanne Amiel, Clarisse Baumann, Marie-Christine de Blois, Valérie Cormier-Daire, Bénédicte Gerard, Marion Gerard, Martine Le Merrer, Philippe Parent, Fabienne Prieur, Marguerite Prieur, Odile Raoul, Annick Toutain, Alain Verloes, Géraldine Viot, Serge Romana, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Catherine Turleau

Journal: Eur. J. Hum. Genet.. 2005 May;13(5):690-3.

 

Kabuki syndrome (KS) is a rare MCA/MR syndrome with an estimated frequency of 1/32 000 in Japan. This syndrome is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and mental retardation. The molecular basis of ...

Last Updated: 26 Apr 2005

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.