Information sheet about 16p11.2 Deletion Syndrome
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
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.
- 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/
16p11.2 – Australia & New Zealand Families https://www.facebook.com/groups/1591333251151209/
Chromosome 16 https://www.facebook.com/groups/162080232644/
Support Contacts International
Chromosome Disorder Outreach
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
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