15q11.2 microdeletion

What causes a 15q11.2 microdeletion?

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

What is the long-term outlook for people with a 15q11.2 microdeletion?

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

Selected Full-Text Journal Articles

15q11.2 microdeletion - articles

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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Surrey RH8 9EE
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Phone: +44 (0)1883 723356 Email: info@rarechromo.org Url: https://www.rarechromo.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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