|Embryology - 11 Dec 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.
L Hou, X X Wang, H L Jiang, T Zhang, L Li, W Y Zhang, X Wang [Application of chromosomal analysis for 29 cases of fetuses with nasal bone absence or hypoplasia]. Zhonghua Yi Xue Za Zhi: 2018, 98(43);3532-3535 PubMed 30481905
Samuel Kim, Jay Collins Colon Cancer in an Adult with Trisomy 13. Am Surg: 2018, 84(9);e391-e392 PubMed 30454509
Ishwar Chander Verma, Ratna Puri, Eswarachary Venkataswamy, Tulika Tayal, Sheela Nampoorthiri, Chitra Andrew, Madhulika Kabra, Rashmi Bagga, Mamatha Gowda, Meenu Batra, Sridevi Hegde, Anita Kaul, Neerja Gupta, Pallavi Mishra, Jayshree Ganapathi Subramanian, Shruti Lingaiah, Riyaz Akhtar, Francis Kidangan, R Chandran, C Kiran, G R Ravi Kumar, V L Ramprasad, Priya Kadam Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India. J Obstet Gynaecol India: 2018, 68(6);462-470 PubMed 30416273
S Galeva, L Konstantinidou, M M Gil, R Akolekar, K H Nicolaides Routine first-trimester screening for fetal trisomies in twin pregnancies: cell-free DNA test contingent on results from the combined test. Ultrasound Obstet Gynecol: 2018; PubMed 30353581
Pascaline Létard, Fabien Guimiot, Céline Dupont, Jonathan Rosenblatt, Anne-Lise Delezoide, Suonavy Khung-Savatovsky Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses. Am. J. Med. Genet. A: 2018; PubMed 30328679
- 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
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Cite this page: Hill, M.A. (2018, December 11) Embryology Trisomy 13. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_13
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