Trisomy 13

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Trisomy 13
Chromosome 13

International Classification of Diseases (ICD-10) - Q91 Edwards' syndrome and Patau's syndrome (ICD-11 beta) - LC20.2 Complete trisomy 13

Trisomy 13 (Patau syndrome) is a rare (1 in 10,000 newborns) developmental genetic abnormality (aneuploidy) with three copies of chromosome 13, instead of the usual two copies, there can also be a chromosomal translocation. Infant may have a single placental artery at birth.

Both trisomy 13 and trisomy 18 are generally considered fatal anomalies, with a majority of infants dying in the first year after birth.[1]

Patau syndrome is named after Klaus Pätau (1908–1975) an American geneticist who in 1960[2] was the first to attribute the syndrome of trisomy to chromosome 13.

Genetic Links: genetic abnormalities | Genetic risk maternal age | Trisomy 21 | Trisomy 18 | Trisomy 13 | Trisomy X | Monosomy | Fragile X | Williams | Alagille | Philadelphia chromosome | mitochondria | hydatidiform mole | epigenetics | Prenatal Diagnosis | Neonatal Diagnosis | meiosis | mitosis | International Classification of Diseases | genetics

Some Recent Findings

  • Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009[3] "This study describes the cytological and epidemiological findings in 985 trisomy 13 and 2512 trisomy 18 compared with 10,255 trisomy 21 diagnoses between 2004 and 2009 included in the National Down Syndrome Cytogenetic Register of England and Wales. The frequency of occurrence, proportions diagnosed prenatally, sex ratios, mean maternal age, and proportions of mothers with recurrences were analyzed. Ninety-seven, 98%, and 92% were free karyotypes for trisomy 21, 18, and 13, respectively; 3% of 21, 1% of 18, and 8% of trisomy 13 were translocations; and under 1% of trisomies 21 and 18 were double or triple aneuploids. Overall 1% of each trisomy had mosaicism, but 48% of the trisomy 21 double aneuploids, and 10% of trisomy 18 multiple aneuploids had mosaicism. The proportion of livebirths was 40% of trisomy 21, 11% of 18, and 13% of 13, respectively. Free trisomies 21 and 13 had an excess of males, and 18 had an excess of females, as did mosaic free trisomies 21 and 18. Mean maternal ages were 35.9 years in trisomy 21, 36.4 years in 18, and 34.6 years in 13. During the 6 years of data collection 1% of the mothers had recurrences, most recurrent trisomy 21 or 18 were identical translocations, but hetero-trisomic recurrences included 21 and 18, and 21 and 13. There are significant differences between the trisomic karyotypes and attributes, possibly related to their variable origins. Notable are the relative excess of trisomy 13 translocations, mosaicism in cases with multiple aneuploidy, and the types of homo- and hetero-recurrences."
  • Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies[4]
More recent papers  
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This table shows an automated computer PubMed search using the listed sub-heading term.

  • Therefore the list of references do not reflect any editorial selection of material based on content or relevance.
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References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.

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Search term: Trisomy 13

Paul Kruszka, Maximilian Muenke Syndromes associated with holoprosencephaly. Am J Med Genet C Semin Med Genet: 2018; PubMed 29770994

Phoebe Winn, Krishna Acharya, Erika Peterson, Steven Leuthner Prenatal counseling and parental decision-making following a fetal diagnosis of trisomy 13 or 18. J Perinatol: 2018; PubMed 29740195

Boris Wittekindt, Rolf Schloesser, Nora Doberschuetz, Emilia Salzmann-Manrique, Jasmin Grossmann, Bjoern Misselwitz, Udo Rolle Epidemiology and Outcome of Major Congenital Malformations in a Large German County. Eur J Pediatr Surg: 2018; PubMed 29715697

Yoshihiko Shitara, Yuki Naruse, Rie Matsushita Concerns About the Study "Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18". Pediatrics: 2018; PubMed 29712761

Soichi Shibuya, Yuichiro Miyake, Shigeru Takamizawa, Eriko Nishi, Katsumi Yoshizawa, Tomoko Hatata, Kazuki Yoshizawa, Kenya Fujita, Masahiko Noguchi, Jun Ohata, Takehiko Hiroma, Tomohiko Nakamura, Tomoki Kosho Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed clinical observation. Am. J. Med. Genet. A: 2018, 176(5);1137-1144 PubMed 29681109


  • Euploidy normal, means having the complete chromosome sets (n, 2n, 3n). Aneuploidy is one of the three main classes of numerical chromosomal abnormalities:
  • Aneuploidy are chromosome mutations in which chromosome number is abnormal (increased or reduced), nondisjunction in meiosis or mitosis (anaphase of meiosis I, sister chromatids fail to disjoin at either meiosis II or at mitosis) is the cause of most aneuploids.
  • Polyploidy includes triploidy, usually due to two sperm fertilizing a single egg.
  • Mixoploidy includes mosaicism, where there are two or more genetically different cell lines in an individual.


Syndrome abnormalities USA 1998-2008 graph.jpg

Abnormalities from USA Nationwide Inpatient Sample database (1998 to 2008)[5]

Cardiac Abnormalities

  • Atrial septal defect
  • Patent ductus arteriosus
  • Ventricular septal defect

A recent study of Japanese cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan[6]</ref>

  • clinical data from 134 patients with T18 and 27 patients with T13
  • patients with T13, 5 (19%) of 27 patients were alive during study period.
  • Twenty-three (85%) of 27 patients had CHD and 13 (57%) of 27 patients had PH.
  • Atrial septal defect was the most common form of CHD (22%).
  • Cardiac surgery was done in 6 (26%) of 23 patients.

Cyclopedia Abnormality

Digit Abnormality

Trisomy 13 polydactyly.jpg

Trisomy 13 polydactyly[7]

Neural Tube Abnormality

Additional Images


  1. Nelson KE, Hexem KR & Feudtner C. (2012). Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics , 129, 869-76. PMID: 22492767 DOI.
  2. PATAU K, SMITH DW, THERMAN E, INHORN SL & WAGNER HP. (1960). Multiple congenital anomaly caused by an extra autosome. Lancet , 1, 790-3. PMID: 14430807
  3. Alberman E, Mutton D & Morris JK. (2012). Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009. Am. J. Med. Genet. A , 158A, 1145-50. PMID: 22495937 DOI.
  4. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL & Ledbetter DH. (2010). Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. , 86, 749-64. PMID: 20466091 DOI.
  5. Egbe A, Lee S, Ho D, Uppu S & Srivastava S. (2014). Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis. Ann Pediatr Cardiol , 7, 86-91. PMID: 24987252 DOI.
  6. Maeda J, Yamagishi H, Furutani Y, Kamisago M, Waragai T, Oana S, Kajino H, Matsuura H, Mori K, Matsuoka R & Nakanishi T. (2011). The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am. J. Med. Genet. A , 155A, 2641-6. PMID: 21990245 DOI.
  7. Chan A, Lakshminrusimha S, Heffner R & Gonzalez-Fernandez F. (2007). Histogenesis of retinal dysplasia in trisomy 13. Diagn Pathol , 2, 48. PMID: 18088410 DOI.


Chen CP. (2010). Prenatal diagnosis and genetic counseling for mosaic trisomy 13. Taiwan J Obstet Gynecol , 49, 13-22. PMID: 20466287 DOI.

Solomon BD, Rosenbaum KN, Meck JM & Muenke M. (2010). Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet , 154C, 146-8. PMID: 20104610 DOI.

Spencer K. (2007). Aneuploidy screening in the first trimester. Am J Med Genet C Semin Med Genet , 145C, 18-32. PMID: 17290444 DOI.

Bugge M, deLozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L & Petersen MB. (2005). Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases. Am. J. Med. Genet. A , 132A, 310-3. PMID: 15690377 DOI.

Oyler M, Long BW & Cox LA. (2004). Sonographic markers used to detect frequent trisomies. Radiol Technol , 76, 13-8. PMID: 15503716

Shipp TD & Benacerraf BR. (2002). Second trimester ultrasound screening for chromosomal abnormalities. Prenat. Diagn. , 22, 296-307. PMID: 11981910 DOI.

Rodríguez JI, García M, Morales C, Morillo A & Delicado A. (1990). Trisomy 13 syndrome and neural tube defects. Am. J. Med. Genet. , 36, 513-6. PMID: 2202219 DOI.

Huang CY, Chiang JH, Yeh GP, Chou PH, Shiau HJ, Lai YS & Li SY. (1987). Cyclopia with trisomy 13. Aust N Z J Obstet Gynaecol , 27, 251-5. PMID: 3325020


Lakovschek IC, Streubel B & Ulm B. (2011). Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am. J. Med. Genet. A , 155A, 2626-33. PMID: 21990236 DOI.

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Search Pubmed Nov 2010 "Trisomy 13" - All (3649) Review (283) Free Full Text (452)

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