Trisomy 13

Alternative names

Patau syndrome

Definition

Trisomy 13 is a syndrome associated with the presence of a third (extra) number 13 chromosome.

Causes, incidence, and risk factors

Trisomy 13 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 than a few months of life. Almost half of the affected infants do not survive beyond 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.

Symptoms

Mental retardation, severe
Seizures
Small head (microcephaly)
Scalp defects (absent skin)
Small eyes (microphthalmia)
Cleft lip and/or palate
Eyes close set (hypotelorism) -- eyes may actually fuse together into one
Iris defects (coloboma)
Pinna abnormalities and low set ears
Simian crease
Extra digits (polydactyly)
Hernias: umbilical hernia, inguinal hernia
Undescended testicle (cryptorchidism)
Hypotonia
Micrognathia
Motormental retardation
Skeletal (limb) abnormalities

Signs and tests

The infant may have a single umbilical artery at birth. There are often signs of congenital heart disease:

Ventricular septal defect (VSD)
Atrial septal defect (ASD)
Patent ductus arteriosus (PDA)
Abnormal placement of the heart (dextroversion -- the heart is placed toward the right side of the chest instead of the left)

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.

Treatment

Because of the severity of congenital defects, life-sustaining procedures are generally not attempted.

Support Groups

Support Organization for Trisomy 18, 13 and Related Disorders (SOFT)
2982 S. Union St.
Rochester, NY 14624
716-594-4621
800-716-SOFT (7638)
www.trisomy.org

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.

Complications

Complications 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 provider

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

Trisomy 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.

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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.

Symptoms
Newborns with Patau syndrome share common physical characteristics:

Extra fingers or toes (polydactyly)
Deformed feet, known as rocker-bottom feet
Neurological problems such as small head (microcephaly), failure of the brain to divide into halves during gestation (holoprosencephaly), severe mental deficiency
Facial defects such as small eyes (microphthalmia), absent or malformed nose, cleft lip and/or cleft palate
Heart defects (80% of individuals)
Kidney defects

Diagnosis
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
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.

Genetic 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.).

http://rarediseases.about.com/od/rarediseasesp/a/patau05.htm

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Clinical Studies and Abstracts:

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Dichorionic triamniotic triplet pregnancy with monozygotic twins discordant for trisomy 13 after preimplantation genetic screening: case report.

April 2008

Elsevier

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Intensive cardiac management in patients with trisomy 13 or trisomy 18

Am J Med Genet A. 2008 Apr

Wiley InterScience

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Placental mesenchymal dysplasia associated with trisomy 13: Sonographic findings

J Clin Ultrasound. 2008 Mar 24

Wiley InterScience

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The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18

Am J Med Genet A. 2008 Apr

Wiley InterScience

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Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003.

Am J Med Genet A. 2008 Apr

Wiley InterScience

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Temporal bone study of trisomy 13 syndrome

Laryngoscope. 2008 Mar

Lippincott, Williams & Wilkins

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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

ThiemeConnect

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Histogenesis of retinal dysplasia in trisomy 13

Diagn Pathol. 2007 Dec

Diagnostic Pathology

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The origin of trisomy 13

Am J Med Genet A. 2007 Oct

WileyInterScience

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Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy

J Ultrasound Med. 2007 Sep

Journal Ultrasound

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Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13.

Epilepsia. 2007 Nov

PubMed

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Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-M0 patients.

Haematologica. 2007 Aug

Haematologica

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External Links and Resources:

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Living with Trisomy 13

http://www.livingwithtrisomy13.org/

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Hope for Trisomy 13 & 18

http://www.hopefortrisomy13and18.org/

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Patau Syndrome (Trisomy 13)

http://rarediseases.about.com/od/rarediseasesp/a/patau05.htm

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Genetics Home Reference

http://ghr.nlm.nih.gov/condition=trisomy13

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ICD-10 and ICD-9

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ICD-10: Q91

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

ICD-9

2008 ICD-9-CM Diagnosis 758.1

Patau's syndrome

The presence of an additional (third) chromosome on an otherwise diploid chromosome 13 with variable abnormalities, most characteristic of which are microcephaly, microphthalmia, hypertelorism, cleft lip or palate, polydactyly, and cardiovascular, genitourinary, and neurological abnormalities. It is one of the most frequent causes of perinatal deaths.

758.1 is a specific code that can be used to specify a diagnosis
758.1 contains 19 index entries
View the ICD-9-CM Volume 1 758.* hierarchy

758.1 also known as:

Trisomy:
- 13
- D1

DiseasesDB	13373
eMedicine	ped/1745

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see also:

Trisomy Disorders

http://journals.aol.com/patoco2/TrisomyDisorders/

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