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Information sheet about 16p11.2 Deletion Syndrome

Other Names

Proximal 16p11.2 microdeletion syndrome; Chromosome 16p11.2 deletion syndrome; Del (16) (p11.2); Monosomy 16p11.2; Autism, susceptibility to, 14A; AUTS14A; Proximal monosomy 16p11.2

Categories

Chromosome Disorders; Congenital and Genetic Diseases; Rare Diseases

Signs and Symptoms

Signs and symptoms of 16p11.2 deletion syndrome vary; people may have developmental delay and intellectual disability at any age. Those with the deletion may have no identified issues or abnormalities.

Some of the recorded symptoms are:

  • Some degree of developmental delay, intellectual disability and/or autism spectrum disorder (ASD).
  • Developmental delays tend to affect language and brain function more than motor function.
  • Expressive language skills (vocabulary and speech) are generally more severely affected than receptive language skills (the ability to understand speech).
  • Minor physical differences such as low-set ears or partially webbed toes.
  • Malformation of the spine.
  • Increased risk of obesity compared with the general population; increased risk of seizures and minor heart defects.

Cause/Inheritance

  • 16p11.2 deletion syndrome is a condition caused by a missing piece (deletion) on a specific region of chromosome 16 designated as p11.2.
  • Most cases of 16p11.2 deletion syndrome are not inherited and occur due to a random event when the egg or sperm are produced or in early foetal development.
  • The inheritance of 16p11.2 deletion syndrome is autosomal dominant because a deletion in only one copy of the chromosome 16 in each cell is sufficient to cause the condition.
  • Most people with 16p11.2 deletion syndrome have no history of the disorder in their family, although they can pass the condition to their children.
  • When a person with a 16p11.2 deletion has children, each child has a 50% (1 in 2) risk of inheriting the deletion.

Treatment and Management

The treatment of 16p11.2 deletion syndrome is based on the signs and symptoms present. For example:

  • A full developmental assessment, including neuropsychological testing by a clinical psychologist, is needed to develop a treatment plan for the mental health and development needs of the person.
  • If the person has seizures or is suspected to have seizures, they may be referred to a neurologist.
  • Due to the high risk of obesity, which often begins in adolescence, encourage healthy eating habits with attention to portion size and an active lifestyle from a young age.
  • Early diagnosis and access to therapies for speech and language are recommended.
  • Children with mild to moderate intellectual disability may benefit from special education services.
  • Periodic re-evaluation by a clinical geneticist may be suggested to keep the family up to date with new developments and/or recommendations.

Support Contacts Australia

Australian Rare Chromosome Awareness Network (ARCAN) http://www.arcan.org.au/

Facebook Support

16p11.2 https://www.facebook.com/16p11.2/

16p11.2 – Australia & New Zealand Families https://www.facebook.com/groups/1591333251151209/

Chromosome 16 https://www.facebook.com/groups/162080232644/

Support Contacts International

Unique www.rarechromo.org

16p11.2 guide

https://www.rarechromo.org/media/information/Chromosome%2016/16p11.2%20microdeletions%20FTNW.pdf

Chromosome Disorder Outreach

https://chromodisorder.org/

Sources

Genetics Home Reference https://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome#resources

National Center for Biotechnology Information https://www.ncbi.nlm.nih.gov/books/NBK11167/

Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome

Orphanet http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=19857&Disease_Disease_Search_diseaseGroup=16p11-2-deletion-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Proximal-16p11-2-microdeletion-syndrome&title=Proximal-16p11-2-microdeletion-syndrome&search=Disease_Search_Simple

 

Disclaimer: This information is for general use only and is not meant to be a substitute for seeking professional care in the diagnosis, treatment and management of this condition.

Last update May 2018