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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Chromosome 13, trisomy 13 complete
  • Complete trisomy 13 syndrome
  • D trisomy syndrome (formerly)
  • Patau syndrome
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Your Question

Are there treatments for trisomy 13? What is the prognosis? What is life like for those who have this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is trisomy 13?

Trisomy 13, also called Patau syndrome, is a genetic disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the extra 13th chromosome (mosaicism), whereas other cells contain the normal chromosomal pair.[1][2][3] The extra material interferes with normal development, leading to severe intellectual disability and physical abnormalities in many parts of the body. Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents.[2][3] Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only about 5-10 percent of children with this condition live past their first year.[2]
Last updated: 1/9/2012

What are the signs and symptoms of trisomy 13?

Trisomy 13 is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with this condition often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers and/or toes (polydactyly), cleft lip or palate, and decreased muscle tone (hypotonia).[2] Many infants with trisomy 13 fail to grow and gain weight at the expected rate (failure to thrive), have severe feeding difficulties, and episodes in which there is temporary cessation of spontaneous breathing (apnea).[1]

 
Other features or trisomy 13 may include:[3]

 

Last updated: 1/9/2012

What are the genetic changes related to trisomy 13?

Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13.[2]

Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. Affected people have two normal copies of chromosome 13, plus an extra copy of chromosome 13 attached to another chromosome. In rare cases, only part of chromosome 13 is present in three copies. The physical signs and symptoms in these cases may be different than those found in full trisomy 13.[2]

A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body's cells. In these people, the condition is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy 13.[2]

Last updated: 10/13/2009

How might trisomy 13 be treated?

Treatment of children with trisomy 13 is planned on a case-by-case basis. The type of treatment given depends on the patient's individual condition.[3] Surgical interventions are generally withheld for the first few months of life because of the high mortality rates of babies with trisomy 13. Parents and medical personnel must carefully weigh decisions about extraordinary life-prolonging measures against the severity of the neurological and physical defects that are present and the likelihood of postsurgical recovery or prolonged survival.[4]
Last updated: 1/9/2012

What is the prognosis for individuals with trisomy 13?

Trisomy 13 involves multiple abnormalities, many of which are not compatible with life. More than 80% of children with this condition die in the first month. For those that do survive, complications are common and may include:[3] 

  • Breathing difficulty or lack of breathing (apnea)
  • Deafness
  • Feeding problems
  • Heart failure
  • Seizures
  • Vision problems

Individuals with trisomy 13 who survive infancy exhibit severe mental retardation and developmental delays and are at increased risk for malignancy. Individuals without severe complications are the most likely to exhibit prolonged survival. Although those who survive trisomy 13 have low educational potential, increased stimulation and interaction may help to maximize developmental potential.[4]

Last updated: 10/13/2009

Where can I learn more about living with trisomy 13?

Information and supportive resources for trisomy 13 can be obtained from the Support Organization for Trisomy 18, 13, and Related Disorders (SOFT) and Living With Trisomy 13. These groups provide psychosocial support to families dealing with this condition on a day-to-day basis.   
Last updated: 10/13/2009

References