15q24 microdeletion syndrome occurs when a person has one intact chromosome 15, but the other has a small amount of material missing (microdeletion) on the long arm (q). No single gene has so far been shown to produce the characteristic features of 15q24 microdeletion syndrome. The exact size of the deletion varies, but people with 15q24 are missing between 1.7 million and 6.1 million, or 1.7-6.1 megabases (Mb), of DNA building blocks (base pairs) at position q24 on chromosome 15. Base pairs are the chemicals in DNA that form the end of the "rungs" of its ladder-like structure.
Although the size of the deletion for 15q24 microdeletion varies with each individual (between 1.7-6.1 Mb), all individuals are missing the same 1.2 Mb region on one copy of their chromosome 15. The signs and symptoms that result from a 15q24 microdeletion are probably related to the loss of one or more genes in this deleted region, as this section on chromosome 15 contains several genes that are thought to be important for normal development. It is unclear, however, which missing genes contribute to the specific features of the disorder.
Other Questions About 15q24 deletion syndrome
- Will my child with 15q24 microdeletion syndrome have similarly affected children?
- Why is 15q24 microdeletion syndrome caused by a microdeletion?
- Who in my family should be tested for 15q24 microdeletion syndrome?
- What specialist doctors should I see with 15q24 microdeletion syndrome?
- What other diseases look like 15q24 microdeletion syndrome?

