Microdeletion Syndrome is a condition caused by the deletion of a gene at a specific position in a chromosome. The size of the deletion can be as small as 500,000 and is usually between 2.0 and 3.0 million bases. Deletions of between 2 million and 300,000 base sequences are usually observed. Depending on the size and position of the deletion, the disease can have a variety of symptoms and severity, all of which are associated with developmental delay such as mental retardation. Most microdeletion syndromes are naturally occurring and can occur regardless of maternal age.

The following four types of deletion syndrome can be tested at our laboratory:

These diseases are caused by a deletion of the long arm of chromosome 22, the short arm of chromosome 1, the short arm of chromosome 17 and the short arm of chromosome 4, respectively. See the links for more information.