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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 allows an automated computer search of the external PubMed database using the listed "Search term" text link.
<pubmed limit=5>Trisomy 13</pubmed>
- 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. (2019, February 19) Embryology Trisomy 13. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_13
- © Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G