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15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.
Source: GARD Last updated on 05-01-20
The signs and symptoms in people with a 15q11.2 microdeletion can vary widely. Some people with the microdeletion don't have any apparent features, while others are more severely affected. When not all people with a genetic abnormality are affected, the condition is said to have reduced penetrance. When signs and symptoms vary among affected people, the condition is said to have variable expressivity.
The most commonly reported features in people with a 15q11.2 microdeletion include:
Other signs and symptoms that have been reported include seizures; abnormally shaped ears; abnormalities of the palate (roof of the mouth); memory problems; behavioral problems; and mental illness. While some babies with a 15q11.2 microdeletion are born with a minor or serious birth defect, many babies are born completely healthy.
You may read additional information about this microdeletion in Unique's guide entitled '15q11.2 microdeletions.' This guide contains information from both the published medical literature and from a survey of members with a 15q11.2 microdeletion.
Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Global developmental delay|
|Olfactory lobe agenesis|
|Redundant neck skin|
|EMG: repetitive nerve stimulation abnormality|
|Delayed skeletal maturation|
|Attention deficit hyperactivity disorder|
|Midline nasal groove|
|Shoulder flexion contracture|
|Abnormality of male external genitalia|
|Abnormal heart morphology|
|Autosomal dominant inheritance|
|Delayed speech and language development|
A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred.
When a 15q11.2 microdeletion occurs as a de novo mutation, it is due to a random error - either during the formation of a parent's egg or sperm cell, or very soon after conception (fertilization of the egg). A parent with the microdeletion has a 50% chance with each pregnancy to pass on the microdeletion.
The features of 15q11.2 microdeletion occur because the deleted region of the chromosome contains several genes that are important for normal growth and development. It is not yet clear why there is a large range of features and severity among people with a 15q11.2 microdeletion, or why some people are unaffected.
Last updated on 05-01-20
The long-term outlook (prognosis) for people with a 15q11.2 microdeletion depends on how severely affected each person is, as well as the specific signs and symptoms present. For example, a person with the microdeletion who is apparently unaffected may have a normal lifespan; an affected person with congenital heart disease and potential related complications may have a shortened lifespan.
Several adults with a 15q11.2 microdeletion have been described in the medical literature. Some of these adults have no developmental delay or health issues and only learned about having the microdeletion after their child was diagnosed. Reportedly, even two unaffected grandmothers discovered that they carried the microdeletion after a grandchild was diagnosed.
Because the features of people with a 15q11.2 microdeletion vary widely, it is not possible to predict how the microdeletion will affect a specific person. People with specific questions about prognosis for themselves or a family member should speak with their doctors or genetics professional. For people who learn about a diagnosis of 15q11.2 microdeletion during a pregnancy, a meeting with a genetic professional is strongly recommended. A genetic professional can interpret information about the condition, review available options, and provide supportive counseling to people and their family members.
Last updated on 05-01-20
Cox DM, Butler MG. The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review. Borlongan C, ed. International Journal of Molecular Sciences. 2015;16(2):4068-4082.
Last updated on 04-27-20
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