16p11.2 duplication syndrome

Common Name(s)

16p11.2 duplication syndrome

16p11.2 duplication syndrome is a rare genetic disorder where a part of the sixteenth chromosome is duplicated. This means instead of two copies of the genes in this piece, three copies are found in the cells. The duplicated material is from the short (p) arm of the chromosome. The duplication may be caused by a random mistake or mutation (de novo) when the egg or sperm is being made or may be inherited from a parent.

The effects of the syndrome can vary based on the size of the duplication and the specific genes involved. Common symptoms include developmental delays, speech delays, and difficulties with social interactions. Many affected individuals may seem similar to children with autism. Individuals may also experience learning difficulties and are often diagnosed with ADHD (attention-deficit hyperactivity disorder). Other common symptoms include mental health problems such as anxiety, depression, bipolar disorder, and schizophrenia. There are also cases where the individual may have no noticeable symptoms.

Physical symptoms may vary based on the size and area involved in the duplication. Many individuals with 16p11.2 duplications have a small head (microcephaly) in relation to their body. Individuals are often underweight, but may become overweight as they age. Other symptoms include a variety of birth defects, which range from mild to severe and affect different organs. Seizures may develop but usually can be controlled with medication.

Although there is no cure for 16p11.2 duplication syndrome, there are many resources available to help manage the condition and treat birth defects. Doctors may seek help from various therapists and community services to help care for and support families affected by this condition. Genetic counselors and support groups are great resources of information and offer a way to become connected with other families with the same condition.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "16p11.2 duplication syndrome" for support, advocacy or research.

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Simons VIP Connect

The Simons Variation in Individuals Project (Simons VIP) is an online community and research initiative. We provide a platform to partner families and researchers to better understand over 40 genetic changes (genomic variants) associated with features related to autism and developmental delay.

Last Updated: 20 Jul 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "16p11.2 duplication syndrome" for support, advocacy or research.

Logo
Simons VIP Connect

The Simons Variation in Individuals Project (Simons VIP) is an online community and research initiative. We provide a platform to partner families and researchers to better understand over 40 genetic changes (genomic variants) associated with features related to autism and developmental delay.

http://www.simonsvipconnect.org

Last Updated: 20 Jul 2015

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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 "16p11.2 duplication syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.
 

Author(s): John C K Barber, Victoria Hall, Viv K Maloney, Shuwen Huang, Angharad M Roberts, Angela F Brady, Nicki Foulds, Beverley Bewes, Marianne Volleth, Thomas Liehr, Karl Mehnert, Mark Bateman, Helen White

Journal: Eur. J. Hum. Genet.. 2013 Feb;21(2):182-9.

 

Chromosome 16 contains multiple copy number variations (CNVs) that predispose to genomic disorders. Here, we differentiate pathogenic duplications of 16p11.2-p12.2 from microscopically similar euchromatic variants of 16p11.2. Patient 1 was a girl of 18 with autism, moderate intellectual ...

Last Updated: 31 Dec 1969

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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 "16p11.2 duplication syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP)
 

Status: Recruiting

Condition Summary: 16p11.2 Deletions; 16p11.2 Duplications; 1q21.1 Deletions; 1q21.1 Duplications; ADNP (ADNP1, KIAA0784); ANKRD1 (ANCO1, T13, LZ16); ARID1B (BAF250B); ASXL3 (KIAA1713); BAF105; BAF180 (PBRM1, PB1); BAF190 (SMARCA4/SMARCA2); BAF35 (BCL7B); BAF35b (ACTL6B); BCL11A (CTIP1, EVI9, KIAA1809, FLJ10173); CHD2; CHD8 (KIAA1564, DUPLIN); CTNNB1 (CTNNB); CUL3 (Cullin 3, PHA2E, KIAA0617); DST (BPAG1, BP240); DYRK1A; FOXP1 (QRF1); GRIN2B (NMDAR2B, NR2B); KDM6B (JMJD3, KIAA0346); KMT2E (MLL5); MBD5 (KIAA1461); MED13L (THRAP2, PROSIT240, TRAP240L, KIAA1025); PTEN (PTEN1, MMAC1); REST (NRSF); SCN2A; SMARCC1 (BAF155); SMARCC2 (BAF170); SYNGAP1; Additional Genetic Changes Associated With Autism May be Added as Identified

 

Last Updated: 24 Feb 2017

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