Trisomy 13Patau syndrome
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).
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: the presence of an extra chromosome 13 in some of the cells.
- Partial trisomy: 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.
- Cleft lip or palate
- Clenched hands (with outer fingers on top of the inner fingers)
- Close-set eyes -- eyes may actually fuse together into one
- Decreased muscle tone
- Extra fingers or toes (polydactyly)
- Hernias: umbilical hernia, inguinal hernia
- Hole, split, or cleft in the iris (coloboma)
- Low-set ears
- Intellectual disability, severe
- Scalp defects (missing skin)
- Single palmar crease
- Skeletal (limb) abnormalities
- Small eyes
- Small head (microcephaly)
- Small lower jaw (micrognathia)
- Undescended testicle (cryptorchidism)
Exams and Tests
The infant may have a single umbilical artery at birth. There are often signs of congenital heart disease, such as:
- Abnormal placement of the heart toward the right side of the chest instead of the left
- Atrial septal defect
- Patent ductus arteriosus
- Ventricular septal defect
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 2 sides of the brain.
Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial trisomy.
There is no specific treatment for trisomy 13. Treatment varies from child to child and depends on the specific symptoms.
Support groups for trisomy 13 include:
- Support Organization for Trisomy 18, 13 and Related Disorders (SOFT): trisomy.org
- Hope for Trisomy 13 and 18: www.hopefortrisomy13and18.org
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)
- Feeding problems
- Heart failure
- Vision problems
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 avoid having another child with the condition.
Bacino CA, Lee B. Cytogenetics. In: Kliegman RM, Stanton BF, St. Geme JW, Shor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 81.
Madan-Khetapal S, Arnold G. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Norwalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 1.
Review Date: 8/6/2017
Reviewed By: 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.