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Alternative Names Return to topPatau syndrome
Definition Return to top
Trisomy 13, also called Patau syndrome, is a genetic disorder associated with the presence of extra material from chromosome 13.
Causes Return to top
Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's 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.
Symptoms Return to top
Exams and Tests Return to top
The infant may have a single umbilical artery at birth. There are often signs of congenital heart disease, such as:
Gastrointestinal x-rays or ultrasound may show rotation of the internal organs.
MRI or CT scans of the head may reveal a problem with the structure of the brain. The problem is called holoprosencephaly. It is the joining together of the two sides of the brain.
Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial trisomy.
Treatment Return to top
Medical management of children with Trisomy 13 is planned on a case-by-case basis and depends on the individual circumstances of the patient.
Support Groups Return to top
Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) -- www.trisomy.org
Outlook (Prognosis) Return to top
The syndrome involves multiple abnormalities, many of which are not compatible with life. More than 80% of children with trisomy 13 die in the first month.
Possible Complications Return to top
Complications begin almost immediately. Congenital heart disease is present in approximately 80% of infants with Trisomy 13. Complications may include:
When to Contact a Medical Professional Return to top
Call for an appointment with your health care provider if you have had a child with Trisomy 13, and you plan to have another child.
Prevention Return to top
Trisomy 13 can be diagnosed prenatally by amniocentesis with chromosome studies of the amniotic cells.
Parents of infants with trisomy 13 caused by a translocation should have genetic testing and counseling, which may help them prevent recurrence.Update Date: 7/1/2007 Updated by: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.