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trisomy 13
Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with
severe intellectual disability and physical abnormalities in many parts of the body.
Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities,
very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening
in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate),
and weak muscle tone (hypotonia). 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 five percent to 10 percent of children with this condition live past their first
year.
Frequency
Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age can
have a child with trisomy 13, the chance of having a child with this condition increases
as a woman gets older.
Genetic Changes
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.
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.
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.
Inheritance Pattern
Most cases of trisomy 13 are not inherited and result from random events during
the formation of eggs and sperm in healthy parents. An error in cell division called
nondisjunction results in a reproductive cell with an abnormal number of chromosomes.
For example, an egg or sperm cell may gain an extra copy of chromosome 13. If one of
these atypical reproductive cells contributes to the genetic makeup of a child, the child
will have an extra chromosome 13 in each cell of the body.
Translocation trisomy 13 can be inherited. An unaffected person can carry a
rearrangement of genetic material between chromosome 13 and another chromosome.
These rearrangements are called balanced translocations because there is no extra
material from chromosome 13. A person with a balanced translocation involving
chromosome 13 has an increased chance of passing extra material from chromosome
13 to their children.
Other Names for This Condition
Bartholin-Patau syndrome
complete trisomy 13 syndrome
Patau syndrome
Patau's syndrome
trisomy 13 syndrome
Diagnosis & Management
Genetic Testing
Genetic Testing Registry: Complete trisomy 13 syndrome
https://www.ncbi.nlm.nih.gov/gtr/conditions/C0152095/
Other Diagnosis and Management Resources
MedlinePlus Encyclopedia: Trisomy 13
https://medlineplus.gov/ency/article/001660.htm
General Information from MedlinePlus
Diagnostic Tests
https://medlineplus.gov/diagnostictests.html
Drug Therapy
https://medlineplus.gov/drugtherapy.html
Genetic Counseling
https://medlineplus.gov/geneticcounseling.html
Palliative Care
https://medlineplus.gov/palliativecare.html
Surgery and Rehabilitation
https://medlineplus.gov/surgeryandrehabilitation.html
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Additional Information & Resources
MedlinePlus
Encyclopedia: Trisomy 13
https://medlineplus.gov/ency/article/001660.htm
Health Topic: Brain Malformations
https://medlineplus.gov/brainmalformations.html
Genetic and Rare Diseases Information Center
Trisomy 13
https://rarediseases.info.nih.gov/diseases/7341/trisomy-13
Educational Resources
Disease InfoSearch: Trisomy 13
http://www.diseaseinfosearch.org/Trisomy+13/7233
Lucile Packard Children's Hospital at Stanford: Trisomy 13 and Trisomy 18
http://www.stanfordchildrens.org/en/topic/default?id=trisomy-18-and-13-90-P02419
MalaCards: patau syndrome
http://www.malacards.org/card/patau_syndrome
March of Dimes: Chromosomal Conditions
http://www.marchofdimes.org/baby/chromosomal-conditions.aspx
Merck Manual for Healthcare Professionals
http://www.merckmanuals.com/professional/pediatrics/chromosomal-anomalies/
trisomy-13
Minnesota Department of Health Fact Sheet
http://www.health.state.mn.us/divs/cfh/topic/diseasesconds/trisomy13.cfm
Orphanet: Trisomy 13
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3378
Patient Support and Advocacy Resources
Chromosome Disorder Outreach
http://chromodisorder.org/
National Organization for Rare Disorders (NORD)
https://rarediseases.org/rare-diseases/trisomy-13-syndrome/
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Resource List from the University of Kansas Medical Center: Chromosomal
Conditions
http://www.kumc.edu/gec/support/chromoso.html
Support Organization for Trisomy 18, 13 and Related Disorders
http://trisomy.org/
ClinicalTrials.gov
ClinicalTrials.gov
https://clinicaltrials.gov/ct2/results?cond=%22trisomy+13%22
Scientific Articles on PubMed
PubMed
https://www.ncbi.nlm.nih.gov/pubmed?term=%28%28trisomy+13%5BTIAB%5D%2
9+OR+%28Patau+syndrome%5BTIAB%5D%29%29+AND+%28trisomy%5BMH
%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last
+720+days%22%5Bdp%5D
Sources for This Summary
Chen M, Yeh GP, Shih JC, Wang BT. Trisomy 13 mosaicism: study of serial cytogenetic changes in
a case from early pregnancy to infancy. Prenat Diagn. 2004 Feb;24(2):137-43. Review.
Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/14974123
Crider KS, Olney RS, Cragan JD. Trisomies 13 and 18: population prevalences, characteristics,
and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet A. 2008 Apr 1;146A(7):
820-6. doi: 10.1002/ajmg.a.32200.
Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/18348276
Di Giacomo MC, Susca FC, Resta N, Bukvic N, Vimercati A, Guanti G. Trisomy 13 mosaicism in a
phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy
beyond 2 years of age. Am J Med Genet A. 2007 Mar 1;143A(5):518-20.
Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17163529
FitzPatrick DR, Ramsay J, McGill NI, Shade M, Carothers AD, Hastie ND. Transcriptome analysis of
human autosomal trisomy. Hum Mol Genet. 2002 Dec 15;11(26):3249-56.
Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/12471051
Graham EM, Bradley SM, Shirali GS, Hills CB, Atz AM; Pediatric Cardiac Care Consortium.
Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care
Consortium). Am J Cardiol. 2004 Mar 15;93(6):801-3.
Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/15019900
Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U, Hoffner L, Cockwell AE, Jacobs PA,
Hassold TJ. The origin of trisomy 13. Am J Med Genet A. 2007 Oct 1;143A(19):2242-8.
Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/17853475
Iliopoulos D, Sekerli E, Vassiliou G, Sidiropoulou V, Topalidis A, Dimopoulou D, Voyiatzis N. Patau
syndrome with a long survival (146 months): a clinical report and review of literature. Am J Med
Genet A. 2006 Jan 1;140(1):92-3. Review.
Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/16333832
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Parker MJ, Budd JL, Draper ES, Young ID. Trisomy 13 and trisomy 18 in a defined population:
epidemiological, genetic and prenatal observations. Prenat Diagn. 2003 Oct;23(10):856-60.
Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/14558033
Pont SJ, Robbins JM, Bird TM, Gibson JB, Cleves MA, Tilford JM, Aitken ME. Congenital
malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet A. 2006 Aug 15;
140(16):1749-56.
Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/16835915
Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Population-based analyses of mortality
in trisomy 13 and trisomy 18. Pediatrics. 2003 Apr;111(4 Pt 1):777-84.
Citation on PubMed: https://www.ncbi.nlm.nih.gov/pubmed/12671111
Reprinted from Genetics Home Reference:
https://ghr.nlm.nih.gov/condition/trisomy-13
Reviewed: November 2013
Published: April 25, 2017
Lister Hill National Center for Biomedical Communications
U.S. National Library of Medicine
National Institutes of Health
Department of Health & Human Services
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