What is 16p11.2 Microdeletion Syndrome?
16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2.
How does 16p11.2 Microdeletion Syndrome affect my child?
People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Many 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. However, there is no particular pattern of physical abnormalities that characterizes 16p11.2 deletion syndrome. 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.
FDNA and 16p11.2 Microdeletion Syndrome
Children with this syndrome often remain under-diagnosed because its rarity, dysmorphic facial features are a common finding but are highly variable and therefore not easily recognizable and lack of relevant family history does not trigger suspicion in some cases.
Using FDNA’s service increases the chances of detecting these distinct characteristics, which, when shown to a geneticist can assist in reaching the right medical diagnosis. Start your child's genetic evaluation with a facial analysis.
What additional medical issues should be considered in association with 16p11.2 Microdeletion Syndrome?
Children with 16p11.2 deletion syndrome also tend to suffer from one or more of the following problems:
How common is 16p11.2 Microdeletion Syndrome?
Most people tested for the 16p11.2 deletion have come to medical attention as a result of developmental delay or autistic behaviors. As a result, the prevalence of this deletion in the general population is difficult to determine, but has been estimated at approximately 3 in 10,000. Some individuals with the 16p11.2 deletion have no associated health or behavioral problems, and so the deletion may never be detected.
What causes 16p11.2 Microdeletion Syndrome?
The inheritance of 16p11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome16 ineach cell is sufficient to cause the condition. Most cases of 16p11.2 deletion syndrome are not inherited. 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 16p11.2 deletion have been reported. In inherited cases, other family members may be affected as well.
How is 16p11.2 Microdeletion Syndrome diagnosed?
The 16p11.2 Microdeletion syndrome is diagnosed through special genetic testing and confirmed by the detection of a deletion of specific regions of chromosome 16.
How is 16p11.2 Microdeletion Syndrome treated?
While there is no cure for this syndrome, many complications associated with this syndrome can be treated, and a great deal can be done to support and compensate for functional disabilities. Due to the diversity of the symptoms, it may be necessary to see a number of different specialists and undergo various examinations, including the following: