Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has 3 copies of genetic material from chromosome 13, instead of the usual 2 copies. Rarely, the extra material may be attached to another chromosome (translocation).
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Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's cells.
Trisomy 13: the presence of an extra (third) chromosome 13 in all of the cells.
Mosaic trisomy 13: the presence of an extra chromosome 13 in some of the cells.
Partial trisomy 13: the presence of a part of an extra chromosome 13 in the cells.
The extra material interferes with normal development.
Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to trisomy 13 occur in either the sperm or the egg that forms the fetus.
More than 90% of children with trisomy 13 die in the first year.
Complications begin almost immediately. Most infants with trisomy 13 have congenital heart disease.
Complications may include:
Breathing difficulty or lack of breathing (apnea)
When to Contact a Medical Professional
Call your health care provider if you have had a child with trisomy 13 and you plan to have another child. Genetic counseling can help families understand the condition, the risk of inheriting it, and how to care for the person.
Trisomy 13 can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells.
Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling. This may help them be aware of the chances of having another child with the condition.
Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.