About Rubinstein-Taybi Syndrome Due to 16p13.3 Microdeletion
The New York Center for Rare Diseases supports the mission and guidelines of the Genetic and Rare Diseases Information Center (GARD). The following information is provided by the NIH.
Summary
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. This deletion results in a severe form of Rubinstein-Taybi syndrome. Some researchers believe that it is a unique emerging syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion.
Causes
What Causes This Disease?
Genetic Mutations: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.
If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team.
Chromosomal Changes: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion is caused by a change in the number of chromosomes a person has, or a change in their structure. Chromosomes are structures within cells that hold all our genes. People usually have 46 chromosomes, 23 come from the biological mother and 23 come from the biological father. Most of the time, chromosomal changes occur randomly in the sperm or egg, but some changes are known to be passed on from parent to child.
Given the known chromosomal changes for this disease, you may want to ask your health care team if chromosome testing is right for you. Results from chromosome testing can confirm or rule out a suspected chromosomal disease or help determine a person’s chance of passing on a disease.