Microdeletion Syndromes

There are many different kinds of genetic conditions. Some are caused by whole extra or missing chromosomes (such as Down syndrome), while others are caused by changes in a specific gene (such as sickle cell anemia). There is a third group of genetic conditions called microdeletion syndromes. A microdeletion is when a small area of a chromosome (which is made up of our DNA) is deleted, or missing.

Each section of our DNA has genes that perform different functions in our body. For example, if part of our DNA is deleted that contains genes that help in brain development, that can cause difficulties in brain function. Identifying what section of DNA is missing can sometimes help determine what the related health concerns may be. Other times, the section of DNA that is missing may contain genes that we are not yet familiar with and do not know what they do, meaning that we don’t necessarily know what sort of medical concerns, if any, to expect.

There are many microdeletion syndromes that have been fairly well defined. Click below to get more information:

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Last updated on Nov 20th, 2017