Trisomy 13

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Introduction

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: Introduction | Genetic risk maternal age | Trisomy 21 | Trisomy 18 | Trisomy 13 | Trisomy X | Monosomy | Fragile X | Williams | Alagille | Philadelphia chromosome | Hydatidiform Mole | Prenatal Diagnosis | Neonatal Diagnosis | International Classification of Diseases | Molecular Development - 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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Search term: Trisomy 13

Ting Hu, Hong-Mei Zhu, Zhu Zhang, Jia-Min Wang, Hai-Xia Zhang, Ze Du, Ling-Pingi Li, He Wang, Shan-Ling Liu [Application of Chromosomal Microarray Analysis for Chromosomal Abnormalities of Spontaneously Aborted Fetuses]. Sichuan Da Xue Xue Bao Yi Xue Ban: 2017, 48(5);732-735 PubMed 29130666

Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst Rev: 2017, 11;CD011767 PubMed 29125628

Kosuke Nishi, Noboru Inamura, Satoshi Marutani, Takako Nishino, Tsukasa Takemura Rare basis of patent ductus arteriosus: Persistence of the fifth aortic arch. Pediatr Int: 2017, 59(10);1091-1093 PubMed 29081079

Sylvie Langlois, JoAnn Johnson, François Audibert, Jean Gekas, Jean Claude Forest, André Caron, Keli Harrington, Melanie Pastuck, Hasna Meddour, Amélie Tétu, Julian Little, François Rousseau Comparison of first tier cell-free DNA screening for common aneuploidies with conventional publically funded screening. Prenat. Diagn.: 2017; PubMed 29080223

Stephanie E Wallace, Sara Gilvary, Michael J Smith, Siobhan M Dolan Parent Perspectives of Support Received from Physicians and/or Genetic Counselors Following a Decision to Continue a Pregnancy with a Prenatal Diagnosis of Trisomy 13/18. J Genet Couns: 2017; PubMed 29079891

Aneuploidy

  • 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.

Prevalence

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]

  • 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

References

  1. Katherine E Nelson, Kari R Hexem, Chris Feudtner Inpatient hospital care of children with trisomy 13 and trisomy 18 in the United States. Pediatrics: 2012, 129(5);869-76 PubMed 22492767
  2. K PATAU, D W SMITH, E THERMAN, S L INHORN, H P WAGNER Multiple congenital anomaly caused by an extra autosome. Lancet: 1960, 1(7128);790-3 PubMed 14430807
  3. Eva Alberman, David Mutton, Joan K Morris Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009. Am. J. Med. Genet. A: 2012, 158A(5);1145-50 PubMed 22495937
  4. David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein, W Andrew Faucett, Lars Feuk, Jan M Friedman, Ada Hamosh, Laird Jackson, Erin B Kaminsky, Klaas Kok, Ian D Krantz, Robert M Kuhn, Charles Lee, James M Ostell, Carla Rosenberg, Stephen W Scherer, Nancy B Spinner, Dimitri J Stavropoulos, James H Tepperberg, Erik C Thorland, Joris R Vermeesch, Darrel J Waggoner, Michael S Watson, Christa Lese Martin, David H Ledbetter Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet.: 2010, 86(5);749-64 PubMed 20466091
  5. Alexander Egbe, Simon Lee, Deborah Ho, Santosh Uppu, Shubhika Srivastava Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis. Ann Pediatr Cardiol: 2014, 7(2);86-91 PubMed 24987252 | Ann Pediatr Cardiol.
  6. Jun Maeda, Hiroyuki Yamagishi, Yoshiyuki Furutani, Mitsuhiro Kamisago, Tadashi Waragai, Shinji Oana, Hiroki Kajino, Hiroyuki Matsuura, Katsuhiko Mori, Rumiko Matsuoka, Toshio Nakanishi The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in Japan. Am. J. Med. Genet. A: 2011, 155A(11);2641-6 PubMed 21990245
  7. Ada Chan, Satyan Lakshminrusimha, Reid Heffner, Federico Gonzalez-Fernandez Histogenesis of retinal dysplasia in trisomy 13. Diagn Pathol: 2007, 2;48 PubMed 18088410

Reviews

Chih-Ping Chen Prenatal diagnosis and genetic counseling for mosaic trisomy 13. Taiwan J Obstet Gynecol: 2010, 49(1);13-22 PubMed 20466287

Benjamin D Solomon, Kenneth N Rosenbaum, Jeanne M Meck, Maximilian Muenke Holoprosencephaly due to numeric chromosome abnormalities. Am J Med Genet C Semin Med Genet: 2010, 154C(1);146-8 PubMed 20104610

Kevin Spencer Aneuploidy screening in the first trimester. Am J Med Genet C Semin Med Genet: 2007, 145C(1);18-32 PubMed 17290444

Merete Bugge, Celia deLozier-Blanchet, Mads Bak, Carsten A Brandt, Jens Michael Hertz, Jytte Bieber Nielsen, Laurance Duprez, Michael B Petersen 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: 2005, 132A(3);310-3 PubMed 15690377

Meghan Oyler, Bruce W Long, Linda A Cox Sonographic markers used to detect frequent trisomies. Radiol Technol: 2004, 76(1);13-8 PubMed 15503716

Thomas D Shipp, Beryl R Benacerraf Second trimester ultrasound screening for chromosomal abnormalities. Prenat. Diagn.: 2002, 22(4);296-307 PubMed 11981910

J I Rodríguez, M García, C Morales, A Morillo, A Delicado Trisomy 13 syndrome and neural tube defects. Am. J. Med. Genet.: 1990, 36(4);513-6 PubMed 2202219

C Y Huang, J H Chiang, G P Yeh, P H Chou, H J Shiau, Y S Lai, S Y Li Cyclopia with trisomy 13. Aust N Z J Obstet Gynaecol: 1987, 27(3);251-5 PubMed 3325020


Articles

Ioana Claudia Lakovschek, Berthold Streubel, Barbara Ulm Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am. J. Med. Genet. A: 2011, 155A(11);2626-33 PubMed 21990236


Search Pubmed

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


Search Pubmed: Trisomy 13 | Patau Syndrome

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Cite this page: Hill, M.A. 2017 Embryology Trisomy 13. Retrieved November 18, 2017, from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_13

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