17q21.31 Microdeletion Syndrome

Common Name(s)

17q21.31 Microdeletion Syndrome

17q21.31 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizures, hypotonia. distinctive facial features, and vision problems. Some affected individuals have heart defects, kidney problems, and skeletal anomalies such as foot deformities. Typically their disposition is described as cheerful, sociable, and cooperative. The exact size of the deletion varies among affected individuals, but it contains at least six genes. This deletion affects one of the two copies of chromosome 17 in each cell. The signs and symptoms of 17q21.31 microdeletion syndrome are probably related to the loss of one or more genes in this region.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "17q21.31 Microdeletion Syndrome" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "17q21.31 Microdeletion Syndrome" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details

 

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 "17q21.31 Microdeletion Syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.
 

Author(s): Andy Itsara, Lisenka E L M Vissers, Karyn Meltz Steinberg, Kevin J Meyer, Michael C Zody, David A Koolen, Joep de Ligt, Edwin Cuppen, Carl Baker, Choli Lee, Tina A Graves, Richard K Wilson, Robert B Jenkins, Joris A Veltman, Evan E Eichler

Journal: Am. J. Hum. Genet.. 2012 Apr;90(4):599-613.

 

Recurrent deletions have been associated with numerous diseases and genomic disorders. Few, however, have been resolved at the molecular level because their breakpoints often occur in highly copy-number-polymorphic duplicated sequences. We present an approach that uses a combination ...

Last Updated: 9 Apr 2012

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Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.
 

Author(s): David A Koolen, Juliette Dupont, Nicole de Leeuw, Lisenka E L M Vissers, Simone P A van den Heuvel, Alyson Bradbury, James Steer, Arjan P M de Brouwer, Leo P Ten Kate, Willy M Nillesen, Bert B A de Vries, Michael J Parker

Journal: Eur. J. Hum. Genet.. 2012 Jul;20(7):729-33.

 

The 17q21.31 microdeletion syndrome is characterised by intellectual disability, epilepsy, distinctive facial dysmorphism, and congenital anomalies. To date, all individuals reported with this syndrome have been simplex patients, resulting from de novo deletions. Here, we report sibling ...

Last Updated: 14 Jun 2012

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
 

Author(s): D A Koolen, A J Sharp, J A Hurst, H V Firth, S J L Knight, A Goldenberg, P Saugier-Veber, R Pfundt, L E L M Vissers, A Destrée, B Grisart, L Rooms, N Van der Aa, M Field, A Hackett, K Bell, M J M Nowaczyk, G M S Mancini, P J Poddighe, C E Schwartz, E Rossi, M De Gregori, L L Antonacci-Fulton, M D McLellan, J M Garrett, M A Wiechert, T L Miner, S Crosby, R Ciccone, L Willatt, A Rauch, M Zenker, S Aradhya, M A Manning, T M Strom, J Wagenstaller, A C Krepischi-Santos, A M Vianna-Morgante, C Rosenberg, S M Price, H Stewart, C Shaw-Smith, H G Brunner, A O M Wilkie, J A Veltman, O Zuffardi, E E Eichler, B B A de Vries

Journal: J. Med. Genet.. 2008 Nov;45(11):710-20.

 

The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation.

Last Updated: 3 Nov 2008

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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 "17q21.31 Microdeletion 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.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.