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Trisomy 13

MedGen UID:
445409
Concept ID:
C2936830
Cell or Molecular Dysfunction
Synonyms: Chromosome 13 Duplication; Chromosome 13 Duplications; Duplication, Chromosome 13
SNOMED CT: Trisomy 13 (737540008)

Definition

A chromosomal abnormality characterized by the presence of three copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrisomy 13
Follow this link to review classifications for Trisomy 13 in Orphanet.

Professional guidelines

PubMed

Dungan JS, Klugman S, Darilek S, Malinowski J, Akkari YMN, Monaghan KG, Erwin A, Best RG; ACMG Board of Directors. Electronic address: documents@acmg.net
Genet Med 2023 Feb;25(2):100336. Epub 2022 Dec 16 doi: 10.1016/j.gim.2022.11.004. PMID: 36524989
Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Bedei I, Wolter A, Weber A, Signore F, Axt-Fliedner R
Genes (Basel) 2021 Mar 29;12(4) doi: 10.3390/genes12040501. PMID: 33805390Free PMC Article

Recent clinical studies

Etiology

Kosiv KA, Mercurio MR, Carey JC
Curr Opin Pediatr 2023 Oct 1;35(5):531-537. Epub 2023 Aug 7 doi: 10.1097/MOP.0000000000001278. PMID: 37551160
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
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
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
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
Harraway J
Aust Fam Physician 2017 Oct;46(10):735-739. PMID: 29036772
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH
Ultrasound Obstet Gynecol 2017 Sep;50(3):302-314. Epub 2017 Jul 27 doi: 10.1002/uog.17484. PMID: 28397325

Therapy

Glinianaia SV, Rankin J, Tan J, Loane M, Garne E, Cavero-Carbonell C, de Walle HEK, Gatt M, Gissler M, Klungsøyr K, Lelong N, Neville A, Pierini A, Tucker DF, Urhoj SK, Wellesley DG, Morris JK
Arch Dis Child 2023 Jun;108(6):461-467. Epub 2023 Mar 7 doi: 10.1136/archdischild-2022-325068. PMID: 36882305
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
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
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH
Ultrasound Obstet Gynecol 2017 Sep;50(3):302-314. Epub 2017 Jul 27 doi: 10.1002/uog.17484. PMID: 28397325

Prognosis

Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Adams AD, Stover S, Rac MW
Prenat Diagn 2021 Mar;41(4):486-496. Epub 2021 Feb 4 doi: 10.1002/pd.5886. PMID: 33540475
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
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
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

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
Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
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
Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle-Colarusso T, Cho SJ, Aggarwal D, Kirby RS; National Birth Defects Prevention Network
Birth Defects Res 2019 Nov 1;111(18):1420-1435. Epub 2019 Oct 3 doi: 10.1002/bdr2.1589. PMID: 31580536Free PMC Article
Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F
Cochrane Database Syst Rev 2017 Nov 10;11(11):CD011767. doi: 10.1002/14651858.CD011767.pub2. PMID: 29125628Free 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
Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F
Cochrane Database Syst Rev 2017 Nov 10;11(11):CD011767. doi: 10.1002/14651858.CD011767.pub2. PMID: 29125628Free PMC Article
Satgé D, Nishi M, Sirvent N, Vekemans M
Am J Med Genet C Semin Med Genet 2016 Sep;172(3):296-306. Epub 2016 Jul 30 doi: 10.1002/ajmg.c.31511. PMID: 27474103
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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