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Complete trisomy 13 syndrome(T13)

MedGen UID:
56261
Concept ID:
C0152095
Disease or Syndrome
Synonyms: Chromosome 13, trisomy 13 complete; D trisomy syndrome (formerly); Patau syndrome; T13; Trisomy 13
SNOMED CT: Complete trisomy 13 syndrome (21111006); Patau syndrome (21111006); D>1< trisomy syndrome (21111006)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018068
Orphanet: ORPHA3378

Definition

Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Chen Y, Yang F, Shang X, Liu S, Li M, Zhong M
Ginekol Pol 2022;93(9):716-720. Epub 2022 Mar 22 doi: 10.5603/GP.a2021.0254. PMID: 35315016
Carey JC
Am J Perinatol 2021 Sep;38(11):1122-1125. Epub 2021 Jul 26 doi: 10.1055/s-0041-1732363. PMID: 34311488
van Riel M, Brison N, Baetens M, Blaumeiser B, Boemer F, Bourlard L, Bulk S, De Leener A, Désir J, Devriendt K, Dheedene A, Duquenne A, Fieremans N, Fieuw A, Gatot JS, Grisart B, Janssens S, Khudashvili N, Lannoo L, Marichal A, Meunier C, Palmeira L, Parijs I, Pichon B, Roets E, Sammels E, Smits G, Suenaert M, Sznajer Y, Van den Bogaert K, Vancoillie L, Vandeputte L, Vantroys E, Vermeesch JR, Janssens K
Obstet Gynecol 2021 Jun 1;137(6):1102-1108. doi: 10.1097/AOG.0000000000004385. PMID: 33957658

Curated

American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 13: Positive Cell Free DNA Screen, 2020

Recent clinical studies

Etiology

Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net
Genet Med 2022 Jul;24(7):1379-1391. Epub 2022 May 24 doi: 10.1016/j.gim.2022.03.019. PMID: 35608568
Carvajal HG, Callahan CP, Miller JR, Rensink BL, Eghtesady P
Pediatr Cardiol 2020 Oct;41(7):1319-1333. Epub 2020 Sep 14 doi: 10.1007/s00246-020-02444-6. PMID: 32924070
Rink BD, Norton ME
Semin Perinatol 2016 Feb;40(1):35-43. Epub 2015 Dec 25 doi: 10.1053/j.semperi.2015.11.006. PMID: 26725144
Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, Flood TJ, Mai CT, Wang Y, Canfield MA; National Birth Defects Prevention Network
Am J Med Genet A 2016 Apr;170A(4):825-37. Epub 2015 Dec 10 doi: 10.1002/ajmg.a.37495. PMID: 26663415Free PMC Article
Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W
Ultrasound Obstet Gynecol 2015 May;45(5):530-8. Epub 2015 Apr 8 doi: 10.1002/uog.14792. PMID: 25598039

Diagnosis

Pereira EM
Pediatr Rev 2023 Jan 1;44(1):53-54. doi: 10.1542/pir.2022-005517. PMID: 36587017
Weaver MS, Anderson V, Beck J, Delaney JW, Ellis C, Fletcher S, Hammel J, Haney S, Macfadyen A, Norton B, Rickard M, Robinson JA, Sewell R, Starr L, Birge ND
Am J Med Genet A 2021 Mar;185(3):966-977. Epub 2020 Dec 31 doi: 10.1002/ajmg.a.62051. PMID: 33381915
Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V, Marengo L, Canfield MA, Kallen K, Lelong N, Camelo JL, Stallings EB, Jones AM, Nance A, Huynh MP, Martínez-Fernández ML, Sipek A, Pierini A, Nembhard WN, Goetz D, Rissmann A, Groisman B, Luna-Muñoz L, Szabova E, Lapchenko S, Zarante I, Hurtado-Villa P, Martinez LE, Tagliabue G, Landau D, Gatt M, Dastgiri S, Morgan M
Am J Med Genet A 2019 Dec;179(12):2382-2392. Epub 2019 Sep 30 doi: 10.1002/ajmg.a.61365. PMID: 31566869Free PMC Article
Cammarata-Scalisi F, Araque D, Ramírez R, Guaran L, Silva GD
Bol Med Hosp Infant Mex 2019;76(5):246-250. doi: 10.24875/BMHIM.19000003. PMID: 31536039
Harraway J
Aust Fam Physician 2017 Oct;46(10):735-739. PMID: 29036772

Therapy

Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net
Genet Med 2022 Jul;24(7):1379-1391. Epub 2022 May 24 doi: 10.1016/j.gim.2022.03.019. PMID: 35608568
Kepple JW, Peeples ES
Am J Med Genet A 2022 Feb;188(2):548-555. Epub 2021 Nov 1 doi: 10.1002/ajmg.a.62552. PMID: 34719838
Swanson SK, Schumacher KR, Ohye RG, Zampi JD
J Thorac Cardiovasc Surg 2021 Jul;162(1):241-249. Epub 2020 Sep 1 doi: 10.1016/j.jtcvs.2020.08.082. PMID: 32981701
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Iwarsson E, Jacobsson B, Dagerhamn J, Davidson T, Bernabé E, Heibert Arnlind M
Acta Obstet Gynecol Scand 2017 Jan;96(1):7-18. Epub 2016 Dec 9 doi: 10.1111/aogs.13047. PMID: 27779757

Prognosis

Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B13-B16. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.178. PMID: 33168217
Carvajal HG, Callahan CP, Miller JR, Rensink BL, Eghtesady P
Pediatr Cardiol 2020 Oct;41(7):1319-1333. Epub 2020 Sep 14 doi: 10.1007/s00246-020-02444-6. PMID: 32924070
Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V, Marengo L, Canfield MA, Kallen K, Lelong N, Camelo JL, Stallings EB, Jones AM, Nance A, Huynh MP, Martínez-Fernández ML, Sipek A, Pierini A, Nembhard WN, Goetz D, Rissmann A, Groisman B, Luna-Muñoz L, Szabova E, Lapchenko S, Zarante I, Hurtado-Villa P, Martinez LE, Tagliabue G, Landau D, Gatt M, Dastgiri S, Morgan M
Am J Med Genet A 2019 Dec;179(12):2382-2392. Epub 2019 Sep 30 doi: 10.1002/ajmg.a.61365. PMID: 31566869Free PMC Article
Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, Flood TJ, Mai CT, Wang Y, Canfield MA; National Birth Defects Prevention Network
Am J Med Genet A 2016 Apr;170A(4):825-37. Epub 2015 Dec 10 doi: 10.1002/ajmg.a.37495. PMID: 26663415Free PMC Article
Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W
Ultrasound Obstet Gynecol 2015 May;45(5):530-8. Epub 2015 Apr 8 doi: 10.1002/uog.14792. PMID: 25598039

Clinical prediction guides

Hafezi N, Jensen AR, Saenz ZM, Collings AT, Colgate CL, Inanc Salih ZN, Geddes GC, Gray BW
J Pediatr Surg 2023 Aug;58(8):1512-1519. Epub 2022 Oct 22 doi: 10.1016/j.jpedsurg.2022.10.010. PMID: 36402594
Carvajal HG, Callahan CP, Miller JR, Rensink BL, Eghtesady P
Pediatr Cardiol 2020 Oct;41(7):1319-1333. Epub 2020 Sep 14 doi: 10.1007/s00246-020-02444-6. PMID: 32924070
van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, Bilardo CM, Boon EMJ, Boter M, Diderich KEM, de Die-Smulders CEM, Duin LK, Faas BHW, Feenstra I, Haak MC, Hoffer MJV, den Hollander NS, Hollink IHIM, Jehee FS, Knapen MFCM, Kooper AJA, van Langen IM, Lichtenbelt KD, Linskens IH, van Maarle MC, Oepkes D, Pieters MJ, Schuring-Blom GH, Sikkel E, Sikkema-Raddatz B, Smeets DFCM, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Ven AJEM, van Zelderen-Bhola SL, Henneman L, Galjaard RH, Van Opstal D, Weiss MM; Dutch NIPT Consortium
Am J Hum Genet 2019 Dec 5;105(6):1091-1101. Epub 2019 Nov 7 doi: 10.1016/j.ajhg.2019.10.005. PMID: 31708118Free PMC Article
Satgé D, Nishi M, Sirvent N, Vekemans M, Chenard MP, Barnes A
Am J Med Genet A 2017 Aug;173(8):2088-2096. Epub 2017 May 25 doi: 10.1002/ajmg.a.38294. PMID: 28544599
Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, Flood TJ, Mai CT, Wang Y, Canfield MA; National Birth Defects Prevention Network
Am J Med Genet A 2016 Apr;170A(4):825-37. Epub 2015 Dec 10 doi: 10.1002/ajmg.a.37495. PMID: 26663415Free PMC Article

Recent systematic reviews

Becking EC, Schuit E, van Baar de Knegt SME, Sistermans EA, Henneman L, Bekker MN, Scheffer PG
Prenat Diagn 2023 Jun;43(7):838-853. Epub 2023 May 17 doi: 10.1002/pd.6366. PMID: 37143173
Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net
Genet Med 2022 Jul;24(7):1379-1391. Epub 2022 May 24 doi: 10.1016/j.gim.2022.03.019. PMID: 35608568
García-Pérez L, Linertová R, Álvarez-de-la-Rosa M, Bayón JC, Imaz-Iglesia I, Ferrer-Rodríguez J, Serrano-Aguilar P
Eur J Health Econ 2018 Sep;19(7):979-991. Epub 2017 Dec 16 doi: 10.1007/s10198-017-0946-y. PMID: 29249015
Iwarsson E, Jacobsson B, Dagerhamn J, Davidson T, Bernabé E, Heibert Arnlind M
Acta Obstet Gynecol Scand 2017 Jan;96(1):7-18. Epub 2016 Dec 9 doi: 10.1111/aogs.13047. PMID: 27779757
Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman OA, Madan J, Clarke A, Quenby S, Clarke A
BMJ Open 2016 Jan 18;6(1):e010002. doi: 10.1136/bmjopen-2015-010002. PMID: 26781507Free PMC Article

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    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2020
      American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 13: Positive Cell Free DNA Screen, 2020

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