Trisomy 13

Common Name(s)

Trisomy 13, Patau Syndrome

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. 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.  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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trisomy 13" for support, advocacy or research.

Hope for Trisomy 13 and 18

OUR MISSION The mission of Hope For Trisomy is to 1) FUND RESEARCH for rare trisomies and related chromosome disorders; 2) PROMOTE EDUCATION by developing programs that educate parents of children with Trisomy about options available to their child and teach them how to advocate for their child to receive all available treatment; 3) RAISE AWARENESS by creating and contributing to materials, literature, workshops, seminars, and conferences to educate the medical health professionals, the parents, and the public about Trisomy, so they have accurate and current information and resources available

Last Updated: 7 Aug 2013

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Living with Trisomy 13 - Miracles in Progress

Living With Trisomy 13 is an outreach organization for trisomy and other rare diagnoses.Our mission is to assist families of children with trisomy and other rare diagnoses.We believe in embracing life one moment at a time and provide support to families who chose to carry to term.

Last Updated: 4 Jan 2013

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Support Organization for Trisomy 18, 13 & Related Disorders

SOFT is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18, 13 and related chromosomal disorders. Support can be provided during prenatal diagnosis, the child's life and after the child's passing. SOFT is committed to respect a family's personal decision and to the notion of parent - professional relationships.

Last Updated: 12 Aug 2013

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Support Organization for Trisomy in Australia

S.O.F.T. Australia is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18, 13 and related chromosomal disorders.

Last Updated: 3 Oct 2013

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The Arms of an Angel- Trisomy 18 Association

We are a 501 (c) (3) non-profit organization dedicated to the needs of families affected by the genetic disorder Trisomy 18. It is our mission to provide emotional and financial support to these special families. We will provide information to the community based upon mutual respect, comfort, and understanding, in an attempt to ease the suffering of those experiencing this painful journey. We will work diligently to answer questions that may arise for families of children with Trisomy 18, and provide up-to-date and pertinent information regarding this disorder.

Last Updated: 7 Mar 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Trisomy 13" for support, advocacy or research.

Hope for Trisomy 13 and 18

OUR MISSION The mission of Hope For Trisomy is to 1) FUND RESEARCH for rare trisomies and related chromosome disorders; 2) PROMOTE EDUCATION by developing programs that educate parents of children with Trisomy about options available to their child and teach them how to advocate for their child to receive all available treatment; 3) RAISE AWARENESS by creating and contributing to materials, literature, workshops, seminars, and conferences to educate the medical health professionals, the parents, and the public about Trisomy, so they have accurate and current information and resources available

http://www.hopefortrisomy13and18.org

Last Updated: 7 Aug 2013

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Living with Trisomy 13 - Miracles in Progress

Living With Trisomy 13 is an outreach organization for trisomy and other rare diagnoses.Our mission is to assist families of children with trisomy and other rare diagnoses.We believe in embracing life one moment at a time and provide support to families who chose to carry to term.

http://www.livingwithtri13.org

Last Updated: 4 Jan 2013

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Support Organization for Trisomy 18, 13 & Related Disorders

SOFT is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18, 13 and related chromosomal disorders. Support can be provided during prenatal diagnosis, the child's life and after the child's passing. SOFT is committed to respect a family's personal decision and to the notion of parent - professional relationships.

http://www.trisomy.org

Last Updated: 12 Aug 2013

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Support Organization for Trisomy in Australia

S.O.F.T. Australia is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18, 13 and related chromosomal disorders.

http://www.trisomyaustralia.com/

Last Updated: 3 Oct 2013

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The Arms of an Angel- Trisomy 18 Association

We are a 501 (c) (3) non-profit organization dedicated to the needs of families affected by the genetic disorder Trisomy 18. It is our mission to provide emotional and financial support to these special families. We will provide information to the community based upon mutual respect, comfort, and understanding, in an attempt to ease the suffering of those experiencing this painful journey. We will work diligently to answer questions that may arise for families of children with Trisomy 18, and provide up-to-date and pertinent information regarding this disorder.

http://www.trisomy18dallas.org

Last Updated: 7 Mar 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Trisomy 13" returned 82 free, full-text research articles on human participants. First 3 results:

The natural history of pregnancies with a diagnosis of trisomy 18 or trisomy 13; a retrospective case series.
 

Author(s): Orla A Houlihan, Keelin O'Donoghue

Journal:

 

Trisomy 18 (T18) and trisomy 13 (T13) are the second and third commonest autosomal aneuploidy syndromes respectively. While specific aspects of affected pregnancies have been documented in the literature, few studies document the overall natural history of the trisomies. This study ...

Last Updated: 17 Jan 2014

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Frontomaxillary facial angle measurement in screening for trisomy 18 at 11 + 0 to 13 + 6 weeks of pregnancy: a double-centre study.
 

Author(s): Bartosz Czuba, Wojciech Cnota, Agata Wloch, Piotr Wegrzyn, Krzysztof Sodowski, Miroslaw Wielgos, Dariusz Borowski

Journal: Biomed Res Int. 2013 ;2013():168302.

 

The aim of this study was to evaluate the effectiveness of prenatal screening for trisomy 18 with the use of the frontomaxillary facial angle (FMF angle) measurement.

Last Updated: 6 Nov 2013

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Autopsy report of a 7-year old patient with the mosaic trisomy 13.
 

Author(s): George Imataka, Hideo Yamanouchi, Junko Hirato, Mitsuoki Eguchi, Masaru Kojima, Koichi Honma, Osamu Arisaka

Journal: Cell Biochem. Biophys.. 2013 Nov;67(2):813-7.

 

We present here a long survival case of a patient with the mosaic form of trisomy 13 who died of aspiration pneumonia at the age of 7 years and 4 months. The autopsy revealed olfactory aplasia and fenestration of the septum pellucidum, and dilated lateral ventricles and atrophic ...

Last Updated: 30 Oct 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Trisomy 13" returned 2 free, full-text review articles on human participants. First 3 results:

Prenatally detected congenital cystic adenomatoid malformation and postnatally diagnosed trisomy 13: case report and review of the literature.
 

Author(s): Ozden Turan, I Murat Hirfanoğlu, Serdar Beken, Aydan Biri, Tünay Efetürk, Yildiz Atalay

Journal: Turk. J. Pediatr.. ;53(3):337-41.

 

Congenital cystic adenomatoid malformation (CCAM) is a rare bronchopulmonary malformation characterized by loss of the normal pulmonary tissue. CCAM may be frequently associated with cardiac and renal anomalies. Rarely, CCAM may be seen with chromosome abnormalities. This is the first ...

Last Updated: 10 Oct 2011

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Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.
 

Author(s): D Wellesley, I D Young, P Cooke, D F Callen, A Hockey

Journal: J. Med. Genet.. 1988 Oct;25(10):707-10.

 

We present a family segregating for t(5;9)(p15.1;q34.13). Two cases with der(5),t(5;9), resulting in a partial duplication 9q34.13----qter and partial deletion of 5p15.12----pter, were ascertained. The phenotypes were consistent with features of both the cri du chat and trisomy 9q3 syndromes.

Last Updated: 6 Apr 1989

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
 

Status: Recruiting

Condition Summary: Microdeletion Syndromes; Trisomy 21; Trisomy 18; Trisomy 13; Sex Chromosome Abnormalities

 

Last Updated: 28 Oct 2014

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Multiple Gestation Study
 

Status: Recruiting

Condition Summary: Trisomy 13; Trisomy 18; Trisomy 21; Sex Chromosome Abnormalities

 

Last Updated: 28 Oct 2014

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High Risk Multiple Gestation Study
 

Status: Recruiting

Condition Summary: Trisomy 13; Trisomy 18; Trisomy 21; Sex Chromosome Abnormalities

 

Last Updated: 28 Oct 2014

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