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 (a trisomy) rather than twice in cells of the body. In some affected people, only a portion of cells may contain the extra chromosome 13 (called mosaic trisomy 13), whereas other cells contain the normal chromosomal pair. Trisomy 13 causes severe intellectual disability and many physical abnormalities, such as heart defects; brain or spinal cord abnormalities; very small or poorly developed eyes (microphthalmia); extra fingers or toes; cleft lip with or without cleft palate; and weak muscle tone (hypotonia). Most cases are not inherited and result from random errors during the formation of eggs or sperm in healthy parents. Due to various life-threatening medical problems, many infants with trisomy 13 do not survive past the first days or weeks of life.
 

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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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: 2 Sep 2015

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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: 4 Mar 2015

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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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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: 2 Sep 2015

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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: 4 Mar 2015

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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 101 free, full-text research articles on human participants. First 3 results:

Detection of de novo secondary trisomy 13 due to isochromosome (13q;13q) of paternal origin in a pregnancy with fetal cystic hygroma.
 

Author(s): Chih-Ping Chen, Tsang-Ming Ko, Ming-Chao Huang, Schu-Rern Chern, Tan-Wei Lin, Tung-Yao Chang, Yu-Ling Kuo, Wen-Lin Chen, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2015 Feb;54(1):78-80.

 

Last Updated: 14 Feb 2015

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Isolated trisomy 13 defines a homogeneous AML subgroup with high frequency of mutations in spliceosome genes and poor prognosis.
 

Author(s): Tobias Herold, Klaus H Metzeler, Sebastian Vosberg, Luise Hartmann, Christoph Röllig, Friedrich Stölzel, Stephanie Schneider, Max Hubmann, Evelyn Zellmeier, Bianka Ksienzyk, Vindi Jurinovic, Zlatana Pasalic, Purvi M Kakadia, Annika Dufour, Alexander Graf, Stefan Krebs, Helmut Blum, Maria Cristina Sauerland, Thomas Büchner, Wolfgang E Berdel, Bernhard J Woermann, Martin Bornhäuser, Gerhard Ehninger, Ulrich Mansmann, Wolfgang Hiddemann, Stefan K Bohlander, Karsten Spiekermann, Philipp A Greif

Journal: Blood. 2014 Aug;124(8):1304-11.

 

In acute myeloid leukemia (AML), isolated trisomy 13 (AML+13) is a rare chromosomal abnormality whose prognostic relevance is poorly characterized. We analyzed the clinical course of 34 AML+13 patients enrolled in the German AMLCG-1999 and SAL trials and performed exome sequencing, ...

Last Updated: 22 Aug 2014

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Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach.
 

Author(s): Megan P Hall, Matthew Hill, Bernhard Zimmermann, Styrmir Sigurjonsson, Margaret Westemeyer, Jennifer Saucier, Zachary Demko, Matthew Rabinowitz

Journal:

 

To determine how a single nucleotide polymorphism (SNP)- and informatics-based non-invasive prenatal aneuploidy test performs in detecting trisomy 13.

Last Updated: 8 May 2014

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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 8 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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Prenatal diagnosis and genetic counseling for mosaic trisomy 13.
 

Author(s): Chih-Ping Chen

Journal: Taiwan J Obstet Gynecol. 2010 Mar;49(1):13-22.

 

Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged ...

Last Updated: 14 May 2010

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Prenatal sonographic features of fetuses in trisomy 13 pregnancies. IV.
 

Author(s): Chih-Ping Chen

Journal: Taiwan J Obstet Gynecol. 2010 Mar;49(1):3-12.

 

Prenatal ultrasound is a powerful tool to detect structural abnormalities associated with the fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic markers of trisomy 13 in the first trimester, including fetal nuchal translucency ...

Last Updated: 14 May 2010

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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: 15 Oct 2015

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High Risk Multiple Gestation Study
 

Status: Recruiting

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

 

Last Updated: 15 Oct 2015

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Multiple Gestation Study
 

Status: Recruiting

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

 

Last Updated: 15 Oct 2015

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