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Trisomy 21

MedGen UID:
760825
Concept ID:
C3537167
Cell or Molecular Dysfunction
Synonym: trisomy 21
 
Monarch Initiative: MONDO:0700126

Definition

A chromosomal abnormality consisting of the presence of a third copy of chromosome 21 in somatic cells. [from NCI]

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
Lagan N, Huggard D, Mc Grane F, Leahy TR, Franklin O, Roche E, Webb D, O' Marcaigh A, Cox D, El-Khuffash A, Greally P, Balfe J, Molloy EJ
Acta Paediatr 2020 Jun;109(6):1096-1111. Epub 2020 Jan 24 doi: 10.1111/apa.15153. PMID: 31899550
Obstet Gynecol 2016 May;127(5):e108-e122. doi: 10.1097/AOG.0000000000001405. PMID: 26938573

Curated

American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 21/Down syndrome: Positive Cell Free DNA Screen, 2021

Recent clinical studies

Etiology

Porterfield L, Bacak B, Karelsky S
Laryngoscope 2022 Feb;132(2):485-487. Epub 2021 Sep 21 doi: 10.1002/lary.29867. PMID: 34546576
Sánchez-Pavón E, Mendoza H, García-Ferreyra J
JBRA Assist Reprod 2022 Jan 17;26(1):129-141. doi: 10.5935/1518-0557.20210047. PMID: 34542250Free PMC Article
Newman AM, Jhaveri R, Patel AB, Tan TQ, Toia JM, Arshad M
J Pediatr 2021 Jan;228:294-296. Epub 2020 Aug 27 doi: 10.1016/j.jpeds.2020.08.067. PMID: 32861693Free PMC Article
Rafii MS, Kleschevnikov AM, Sawa M, Mobley WC
Handb Clin Neurol 2019;167:321-336. doi: 10.1016/B978-0-12-804766-8.00017-0. PMID: 31753140
Lo JO, Cori D F, Norton ME, Caughey AB
Obstet Gynecol Surv 2014 Feb;69(2):89-99. doi: 10.1097/OGX.0000000000000029. PMID: 25112487

Diagnosis

Farah M, Hickey A, Hoare S, Bravo MC
Ir Med J 2024 May 23;117(5):963. PMID: 38801146
Earley MA, Sher ET, Hill TL
Pediatr Clin North Am 2022 Apr;69(2):381-401. doi: 10.1016/j.pcl.2022.01.005. PMID: 35337546
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
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C
Am J Med Genet A 2015 Jan;167A(1):26-39. Epub 2014 Nov 20 doi: 10.1002/ajmg.a.36861. PMID: 25412855
Shiang R
Atlas Oral Maxillofac Surg Clin North Am 2014 Sep;22(2):197-203. Epub 2014 Jul 23 doi: 10.1016/j.cxom.2014.05.003. PMID: 25172000

Therapy

Miladinovic M, Reinhardt D, Hasle H, Goemans BF, Tomizawa D, Hitzler J, Klusmann JH
Pediatr Blood Cancer 2024 Sep;71(9):e31141. Epub 2024 Jul 4 doi: 10.1002/pbc.31141. PMID: 38965693
Evans AM, Rome K, Carroll M, Hawke F
Cochrane Database Syst Rev 2022 Jan 26;1(1):CD006311. doi: 10.1002/14651858.CD006311.pub4. PMID: 35080267Free PMC Article
Evans AM, Rome K, Carroll M, Hawke F
Cochrane Database Syst Rev 2022 Jan 14;1(1):CD006311. doi: 10.1002/14651858.CD006311.pub3. PMID: 35029841Free PMC Article
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
Coppedè F
Arch Toxicol 2016 Dec;90(12):2917-2929. Epub 2016 Sep 7 doi: 10.1007/s00204-016-1843-3. PMID: 27600794

Prognosis

Motegi N, Yamaoka Y, Moriichi A, Morisaki N
Am J Med Genet A 2022 Jan;188(1):224-236. Epub 2021 Oct 7 doi: 10.1002/ajmg.a.62526. PMID: 34622557Free PMC Article
Nuebling GS, Prix C, Brendel M, Beyer L, Wlasich E, Loosli SV, Barthel H, Sabri O, Bartenstein P, Vöglein J, Danek A, Rominger A, Edbauer D, Haass C, Levin J
Neurobiol Aging 2021 Jul;103:147.e1-147.e5. Epub 2021 Feb 28 doi: 10.1016/j.neurobiolaging.2021.02.021. PMID: 33789815
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
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article

Clinical prediction guides

Esbensen AJ, Schworer EK, Lee NR, Hoffman EK, Yamamoto K, Fidler D
Am J Intellect Dev Disabil 2024 Jan 1;129(1):41-55. doi: 10.1352/1944-7558-129.1.41. PMID: 38147888Free PMC Article
Porterfield L, Bacak B, Karelsky S
Laryngoscope 2022 Feb;132(2):485-487. Epub 2021 Sep 21 doi: 10.1002/lary.29867. PMID: 34546576
Krahn KN, Nagraj VP, McCulloch MA, Zimmet AM, Fairchild KD
J Perinatol 2021 Jun;41(6):1448-1453. Epub 2021 May 25 doi: 10.1038/s41372-021-01105-7. PMID: 34035452Free PMC Article
Santoro SL, Campbell A, Cottrell C, Donelan K, Majewski B, Oreskovic NM, Patsiogiannis V, Torres A, Skotko BG
J Appl Res Intellect Disabil 2021 Jul;34(4):1108-1117. Epub 2021 Mar 23 doi: 10.1111/jar.12866. PMID: 33759305Free PMC Article
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C
Am J Med Genet A 2015 Jan;167A(1):26-39. Epub 2014 Nov 20 doi: 10.1002/ajmg.a.36861. PMID: 25412855

Recent systematic reviews

Evans AM, Rome K, Carroll M, Hawke F
Cochrane Database Syst Rev 2022 Jan 26;1(1):CD006311. doi: 10.1002/14651858.CD006311.pub4. PMID: 35080267Free PMC Article
Evans AM, Rome K, Carroll M, Hawke F
Cochrane Database Syst Rev 2022 Jan 14;1(1):CD006311. doi: 10.1002/14651858.CD006311.pub3. PMID: 35029841Free PMC Article
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS
J Neurol 2021 Dec;268(12):4495-4509. Epub 2020 Sep 12 doi: 10.1007/s00415-020-10179-w. PMID: 32920658
Moriyama CH, Massetti T, Crocetta TB, Silva TDD, Mustacchi Z, Guarnieri R, De Abreu LC, Araújo AVL, Menezes LDC, Monteiro CBM, Leone C
Dev Neurorehabil 2020 Jan;23(1):39-49. Epub 2019 Nov 14 doi: 10.1080/17518423.2019.1687598. PMID: 31726906
Kaczorowska N, Kaczorowski K, Laskowska J, Mikulewicz M
Adv Clin Exp Med 2019 Nov;28(11):1587-1592. doi: 10.17219/acem/112785. PMID: 31778604

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    Clinical resources

    Practice guidelines

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

    Curated

    • ACMG ACT, 2021
      American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 21/Down syndrome: Positive Cell Free DNA Screen, 2021

    Consumer resources

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