Alternative namesPatau syndrome
DefinitionTrisomy 13 is a syndrome associated with the presence of a third (extra) number 13 chromosome.
Causes, incidence, and risk factors
occurs in about 1 out of every 5,000 live births. It is a syndrome
with multiple abnormalities, many of which are not compatible with more
few months of life. Almost half of the affected infants do not survive
the first month, and about three quarters die within 6 months.
Trisomy 13 is associated with multiple abnormalities, including severe mental defects and defects of the brain that lead to seizures (hypsarrhythmia), apnea, deafness, and ocular (relating to the eye) abnormalities.
The eyes are small with defects in the iris (coloboma). Most infants have a cleft lip and cleft palate, and low-set ears. Congenital heart disease is present in approximately 80% of affected infants. Hernias and genital abnormalities are common.
Signs and testsThe infant may have a single umbilical artery at birth. There are often signs of congenital heart disease:
Gastrointestinal X-rays or ultrasound may reveal abnormal rotation of the internal organs.
MRI or CT scans of the head may reveal a structural abnormality of the brain, called holoprosencephaly, where the 2 cerebral hemispheres are fused.Chromosome studies show trisomy 13, partial trisomy, trisomy 13 mosaic, or translocation.
TreatmentBecause of the severity of congenital defects, life-sustaining procedures are generally not attempted.
Organization for Trisomy 18, 13 and Related Disorders (SOFT)
2982 S. Union St.
Rochester, NY 14624
Expectations (prognosis)Extremely short survival time is expected -- 80% of babies die in the first month of life. Survivors have severe mental defects. Rarely, affected persons survive to adulthood.
ComplicationsComplications begin almost immediately. They include breathing difficulty or lack of breathing (apnea), deafness, vision problems, feeding problems, seizures, heart failure, and others.
Calling your health care providerCall for an appointment with your health care provider if you have had a child with Trisomy 13, and you plan to have another child.
PreventionTrisomy 13 can be diagnosed prenatally by amniocentesis with chromosome studies of the amniotic cells. Trisomy 13 mosaicism and partial trisomy 13 also occur. Parents of infants with translocation type trisomy 13 should also have translocation studies.
Update Date: 8/19/2003
Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Patau syndrome, Trisomy 13, is the least common of the autosomal trisomies, after Down syndrome (Trisomy 21) and Edwards syndrome (Trisomy 18). The extra copy of chromosome 13 in Patau syndrome causes severe neurological and heart defects which make it difficult for infants to survive. The exact incidence of Patau syndrome is not known, although it appears to affect females more than males, most likely because male fetuses do not survive until birth. Patau syndrome, like Down syndrome, is associated with increased age of the mother. It may affect individuals of all ethnic backgrounds.
Newborns with Patau syndrome share common physical characteristics:
The symptoms of Patau syndrome are evident at birth. Patau syndrome may be mistaken for Edwards syndrome, so genetic testing should be done to confirm the diagnosis. Imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) should be done to look for brain, heart, and kidney defects. An ultrasound of the heart (echocardiogram) should be done given the high frequency of heart defects associated with Patau syndrome.
Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential.
counseling and support
Parents of a child born with Patau syndrome will receive genetic counseling to determine what their risk is of having another child with the syndrome. A good resource for information and support is the Support Organization for Trisomy 18, 13 and other Related Disorders (S.O.F.T.).
Clinical Studies and Abstracts:
2011 Nov 10
Dichorionic triamniotic triplet pregnancy with monozygotic twins discordant for trisomy 13 after preimplantation genetic screening: case report.
Intensive cardiac management in patients with trisomy 13 or trisomy 18
Am J Med Genet A. 2008 Apr
Placental mesenchymal dysplasia associated with trisomy 13: Sonographic findings
J Clin Ultrasound. 2008 Mar 24
The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18
Am J Med Genet A. 2008 Apr
Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003.
Am J Med Genet A. 2008 Apr
Temporal bone study of trisomy 13 syndrome
Laryngoscope. 2008 Mar
The prenatal detection of trisomy 13, 18, and 21: comparison of the advanced first trimester screening (AFS) with the first trimester screening according to Nicolaides
Z Geburtshilfe Neonatol. 2007 Dec
Histogenesis of retinal dysplasia in trisomy 13
Diagn Pathol. 2007 Dec
The origin of trisomy 13
Am J Med Genet A. 2007 Oct
Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy
J Ultrasound Med. 2007 Sep
Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13.
Epilepsia. 2007 Nov
Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-M0 patients.
Haematologica. 2007 Aug
External Links and Resources:
Living with Trisomy 13
Hope for Trisomy 13 & 18
Patau Syndrome (Trisomy 13)
Genetics Home Reference
ICD-10 and ICD-9
|Edwards' syndrome and Patau's syndrome|
|Q91.0||Trisomy 18, meiotic nondisjunction|
|Q91.1||Trisomy 18, mosaicism (mitotic nondisjunction)|
|Q91.2||Trisomy 18, translocation|
|Q91.3||Edwards' syndrome, unspecified|
|Q91.4||Trisomy 13, meiotic nondisjunction|
|Q91.5||Trisomy 13, mosaicism (mitotic nondisjunction)|
|Q91.6||Trisomy 13, translocation|
|Q91.7||Patau's syndrome, unspecified|
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