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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals.

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. They may be able to refer you to someone they know through conferences or research efforts.

Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis.

Please note that the table may not include all the possible conditions related to this disease. Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

what is 16p11.2 deletion syndrome

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures.

They can direct you to research, resources, and services. Inclusion on this list is not an endorsement by GARD. These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand.The deletion occurs near the middle of the chromosome at a location designated p People with 16p Most also have at least some features of autism spectrum disorders.

These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. In 16p Some people with this disorder have recurrent seizures epilepsy.

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Some affected individuals have minor physical abnormalities such as low-set ears or partially webbed toes partial syndactyly.

People with this disorder are also at increased risk of obesity compared with the general population. However, there is no particular pattern of physical abnormalities that characterizes 16p Signs and symptoms of the disorder vary even among affected members of the same family.

Some people with the deletion have no identified physical, intellectual, or behavioral abnormalities. Most people tested for the 16p Other individuals with the 16p For this reason, the prevalence of this deletion in the general population is difficult to determine but has been estimated at approximately 3 in 10, This deletion affects one of the two copies of chromosome 16 in each cell. The kb region contains more than 25 genes, and in many cases little is known about their function.

Researchers are working to determine how the missing genes contribute to the features of 16p However, most cases of 16p The deletion occurs most often as a random event during the formation of reproductive cells eggs and sperm or in early fetal development. Affected people typically have no history of the disorder in their family, although they can pass the condition to their children. Several examples of inherited 16p In inherited cases, other family members may be affected as well.

Genetics Home Reference has merged with MedlinePlus.

what is 16p11.2 deletion syndrome

Learn more. The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.

From Genetics Home Reference.Proximal 16p Signs and symptoms of 16p Those with the deletion may have no identified issues or abnormalities. The treatment of 16p For example:.

Search for:. 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.

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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

Most cases of 16p The inheritance of 16p Most people with 16p When a person with a 16p Treatment and Management The treatment of 16p 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. Last update May Source: 16p It is important to note that having a risk factor does not mean that one will get the condition.

Some risk factors are more important than others. Also, not having a risk factor does not mean that an individual will not get the condition.

It is always important to discuss the effect of risk factors with your healthcare provider. Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

16p11.2 Deletion Syndrome

There is no cure for 16p The treatment is usually given to manage the signs and symptoms and any complication that develops. Autism Speaks 1 East 33rd St. Hanson, E. Cognitive and behavioral characterization of 16p Portmann, T. Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p Cell reports, 7 4 Yang, M. Autism Research, 8 5 Pebrel-Richard, C. An unusual clinical severity of 16p European Journal of Human Genetics, 22 3 J Dev Behav Pediatr, 31, Bamonte, L.

Developmental presentation, medical complexities, and service delivery for a child with 16p Pediatric Physical Therapy, 27 1 Iqbal, M. P47— To describe association of 16p European Journal of Paediatric Neurology, 19, S Panzini, C.

Mental Health in Childhood: Challenges for Children with Chromosome 22q11.2 Deletion Syndrome

Journal of neurochemistry, 6 Cagnoli, S. Variety of Phenotypes in Chromosome 16p Neuropediatrics, 47 S 01P Adverts are the main source of Revenue for DoveMed.The deletion occurs near the middle of the chromosome at a location designated p People with 16p Most also have at least some features of autism spectrum disorders. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language.

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In 16p Some people with this disorder have recurrent seizures epilepsy. Some affected individuals have minor physical abnormalities such as low-set ears or partially webbed toes partial syndactyly. People with this disorder are also at increased risk of obesity compared with the general population. However, there is no particular pattern of physical abnormalities that characterizes 16p Signs and symptoms of the disorder vary even among affected members of the same family.

Some people with the deletion have no identified physical, intellectual, or behavioral abnormalities. Most people tested for the 16p Other individuals with the 16p For this reason, the prevalence of this deletion in the general population is difficult to determine but has been estimated at approximately 3 in 10, This deletion affects one of the two copies of chromosome 16 in each cell.

The kb region contains more than 25 genes, and in many cases little is known about their function. Researchers are working to determine how the missing genes contribute to the features of 16p However, most cases of 16p The deletion occurs most often as a random event during the formation of reproductive cells eggs and sperm or in early fetal development.

what is 16p11.2 deletion syndrome

Affected people typically have no history of the disorder in their family, although they can pass the condition to their children. Several examples of inherited 16p In inherited cases, other family members may be affected as well.

Scholarly Community. Check Note. Read Edit History Comment Lists. Table of Contents. Topic review. Subjects: Genetics.

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