|Embryology - 22 Sep 2018 Expand to Translate|
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- 1 LC20.2 Complete trisomy 13
- 1.1 Introduction
- 1.2 Some Recent Findings
- 1.3 Aneuploidy
- 1.4 Prevalence
- 1.5 Cardiac Abnormalities
- 1.6 Cyclopedia Abnormality
- 1.7 Digit Abnormality
- 1.8 Neural Tube Abnormality
- 1.9 Additional Images
- 1.10 References
- 1.11 External Links
- 1.12 Glossary Links
LC20.2 Complete trisomy 13
(ICD-10) - Q91 Edwards' syndrome and Patau's syndrome
International Classification of Diseases 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.
Patau syndrome is named after Klaus Pätau (1908–1975) an American geneticist who in 1960 was the first to attribute the syndrome of trisomy to chromosome 13.
Some Recent Findings
|More recent papers|
This table shows an automated computer PubMed search using the listed sub-heading term.
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.
Ismail Tekesin The Value of Detailed First-Trimester Ultrasound Anomaly Scan for the Detection of Chromosomal Abnormalities. [Die Bedeutung einer frühen detaillierten Organdiagnostik im Rahmen einer Ersttrimester-Ultraschalluntersuchung zur Entdeckung chromosomaler Anomalien.] Ultraschall Med: 2018; PubMed 30241105
Jacqueline E Nguyen, Jason L Salemi, Jean P Tanner, Russell S Kirby, Ronald P Sutsko, Terri L Ashmeade, Hamisu M Salihu, Laura L Drach Survival and healthcare utilization of infants diagnosed with lethal congenital malformations. J Perinatol: 2018; PubMed 30237475
Yuan Fang, Guangming Wang, Lize Gu, Jingjing Wang, Feng Suo, Maosheng Gu, Lingshan Gou Application of karyotype analysis combined with BACs-on-Beads for prenatal diagnosis. Exp Ther Med: 2018, 16(4);2895-2900 PubMed 30214511
Ida Vogel, Ann Tabor, Charlotte Ekelund, Stina Lou, Jon Hyett, Olav Bjørn Petersen, The Danish Fetal Medicine Study Group, and the Danish Cytogenetic Study Group Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities: Improving Efficacy using the Combined First Trimester Screening Algorithm as well as Individual Risk Parameters. Fetal. Diagn. Ther.: 2018;1-6 PubMed 30199859
Eriko Nishi, Mizue Takasugi, Rie Kawamura, Soichi Shibuya, Shigeru Takamizawa, Takehiko Hiroma, Tomohiko Nakamura, Tomoki Kosho Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment. Am. J. Med. Genet. A: 2018; PubMed 30152146
- 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.
Abnormalities from USA Nationwide Inpatient Sample database (1998 to 2008)
- 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</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.
Trisomy 13 polydactyly
Neural Tube Abnormality
- 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.
- 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
- Huang T, Meschino WS, Rashid S, Dennis A, Mak-Tam E & Cuckle H. (2018). Enhanced First Trimester Aneuploidy Screening with Placental Growth Factor and Alpha Feto-Protein: Detection of Trisomies 18 and 13. J Obstet Gynaecol Can , , . PMID: 30025867 DOI.
- Pyle AK, Fleischman AR, Hardart G & Mercurio MR. (2018). Management options and parental voice in the treatment of trisomy 13 and 18. J Perinatol , , . PMID: 29977011 DOI.
- 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.
- 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.
- 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.
- 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.
- Chan A, Lakshminrusimha S, Heffner R & Gonzalez-Fernandez F. (2007). Histogenesis of retinal dysplasia in trisomy 13. Diagn Pathol , 2, 48. PMID: 18088410 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
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
Search Pubmed Nov 2010 "Trisomy 13" - All (3649) Review (283) Free Full Text (452)
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Cite this page: Hill, M.A. (2018, September 22) Embryology Trisomy 13. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_13
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