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Complete Trisomy 21 Syndrome

MedGen UID:
1624021
Concept ID:
C4521042
Disease or Syndrome

Definition

A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVComplete Trisomy 21 Syndrome

Recent clinical studies

Etiology

Carmona-Iragui M, Alcolea D, Barroeta I, Videla L, Muñoz L, Van Pelt KL, Schmitt FA, Lightner DD, Koehl LM, Jicha G, Sacco S, Mircher C, Pape SE, Hithersay R, Clare ICH, Holland AJ, Nübling G, Levin J, Zaman SH, Strydom A, Rebillat AS, Head E, Blesa R, Lleó A, Fortea J
Lancet Neurol 2021 Aug;20(8):605-614. doi: 10.1016/S1474-4422(21)00129-0. PMID: 34302785
Channell MM, Mattie LJ, Hamilton DR, Capone GT, Mahone EM, Sherman SL, Rosser TC, Reeves RH, Kalb LG; Down Syndrome Cognition Project.
J Neurodev Disord 2021 Apr 19;13(1):16. doi: 10.1186/s11689-021-09365-2. PMID: 33874886Free PMC Article
Santoro SL, Chicoine B, Jasien JM, Kim JL, Stephens M, Bulova P, Capone G
Am J Med Genet A 2021 Jan;185(1):286-299. Epub 2020 Oct 19 doi: 10.1002/ajmg.a.61924. PMID: 33073471
Koenig KA, Bekris LM, Ruedrich S, Weber GE, Khrestian M, Oh SH, Kim S, Wang ZI, Leverenz JB
Brain Imaging Behav 2021 Aug;15(4):2051-2060. Epub 2020 Oct 18 doi: 10.1007/s11682-020-00399-z. PMID: 33070299Free PMC Article
Tsou AY, Bulova P, Capone G, Chicoine B, Gelaro B, Harville TO, Martin BA, McGuire DE, McKelvey KD, Peterson M, Tyler C, Wells M, Whitten MS; Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup.
JAMA 2020 Oct 20;324(15):1543-1556. doi: 10.1001/jama.2020.17024. PMID: 33079159

Diagnosis

Fagan AM, Henson RL, Li Y, Boerwinkle AH, Xiong C, Bateman RJ, Goate A, Ances BM, Doran E, Christian BT, Lai F, Rosas HD, Schupf N, Krinsky-McHale S, Silverman W, Lee JH, Klunk WE, Handen BL, Allegri RF, Chhatwal JP, Day GS, Graff-Radford NR, Jucker M, Levin J, Martins RN, Masters CL, Mori H, Mummery CJ, Niimi Y, Ringman JM, Salloway S, Schofield PR, Shoji M, Lott IT; Alzheimer's Biomarker Consortium–Down Syndrome.; Dominantly Inherited Alzheimer Network.
Lancet Neurol 2021 Aug;20(8):615-626. doi: 10.1016/S1474-4422(21)00139-3. PMID: 34302786
Carmona-Iragui M, Alcolea D, Barroeta I, Videla L, Muñoz L, Van Pelt KL, Schmitt FA, Lightner DD, Koehl LM, Jicha G, Sacco S, Mircher C, Pape SE, Hithersay R, Clare ICH, Holland AJ, Nübling G, Levin J, Zaman SH, Strydom A, Rebillat AS, Head E, Blesa R, Lleó A, Fortea J
Lancet Neurol 2021 Aug;20(8):605-614. doi: 10.1016/S1474-4422(21)00129-0. PMID: 34302785
Seither K, Tabbah S, Tadesse DG, Suhrie KR
Am J Med Genet A 2021 Feb;185(2):336-343. Epub 2020 Oct 31 doi: 10.1002/ajmg.a.61948. PMID: 33128508
Tsou AY, Bulova P, Capone G, Chicoine B, Gelaro B, Harville TO, Martin BA, McGuire DE, McKelvey KD, Peterson M, Tyler C, Wells M, Whitten MS; Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup.
JAMA 2020 Oct 20;324(15):1543-1556. doi: 10.1001/jama.2020.17024. PMID: 33079159
Santoro JD, Lee S, Mlynash M, Mayne EW, Rafii MS, Skotko BG
Hypertension 2020 Mar;75(3):819-825. Epub 2020 Jan 13 doi: 10.1161/HYPERTENSIONAHA.119.14416. PMID: 31928114

Therapy

Nakamura H, Sato K, Yoshimura S, Hayashi Y, Izumo T, Tokunaga Y
J Stroke Cerebrovasc Dis 2021 Jan;30(1):105414. Epub 2020 Oct 30 doi: 10.1016/j.jstrokecerebrovasdis.2020.105414. PMID: 33130479
Okamoto K, Morio T, Nakamura Y, Hataya H, Mizuta K, Mori M
Acta Paediatr 2021 Apr;110(4):1299-1306. Epub 2020 Nov 12 doi: 10.1111/apa.15641. PMID: 33119906
Valkenburg AJ, Goulooze SC, Breatnach CV, Mathôt RAA, Tibboel D, van Dijk M, Knibbe CAJ, Peeters MYM
Pediatr Crit Care Med 2021 Apr 1;22(4):e259-e269. doi: 10.1097/PCC.0000000000002580. PMID: 33031353
Hassan NM, Shields N, Landorf KB, Buldt AK, Taylor NF, Evans AM, Williams CM, Menz HB, Munteanu SE
Disabil Rehabil 2021 Jul;43(15):2131-2140. Epub 2019 Nov 22 doi: 10.1080/09638288.2019.1692380. PMID: 31756300
Alagoz O, Hajjar A, Chootipongchaivat S, van Ravesteyn NT, Yeh JM, Ergun MA, de Koning HJ, Chicoine B, Martin B
J Gen Intern Med 2019 Nov;34(11):2374-2381. Epub 2019 Aug 5 doi: 10.1007/s11606-019-05182-5. PMID: 31385214Free PMC Article

Prognosis

Carmona-Iragui M, Alcolea D, Barroeta I, Videla L, Muñoz L, Van Pelt KL, Schmitt FA, Lightner DD, Koehl LM, Jicha G, Sacco S, Mircher C, Pape SE, Hithersay R, Clare ICH, Holland AJ, Nübling G, Levin J, Zaman SH, Strydom A, Rebillat AS, Head E, Blesa R, Lleó A, Fortea J
Lancet Neurol 2021 Aug;20(8):605-614. doi: 10.1016/S1474-4422(21)00129-0. PMID: 34302785
Dotan M, Zion E, Ben-Zvi H, Yarden-Bilavsky H, Bilavsky E
Isr Med Assoc J 2021 Jul;23(7):416-419. PMID: 34251123
Nicoletti A, Vatrano M, Sestito S, Apa R, Patroniti S, Ceravolo G, Calabrò MP, Parisi F, Roppa K, De Sarro R, Gitto E, Pensabene L, Concolino D
J Biol Regul Homeost Agents 2020 Jul-Aug;34(4 Suppl. 2):99-106 SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. PMID: 33000608
Landes SD, Stevens JD, Turk MA
Disabil Health J 2020 Oct;13(4):100947. Epub 2020 Jun 10 doi: 10.1016/j.dhjo.2020.100947. PMID: 32680774Free PMC Article
Santoro JD, Lee S, Mlynash M, Mayne EW, Rafii MS, Skotko BG
Hypertension 2020 Mar;75(3):819-825. Epub 2020 Jan 13 doi: 10.1161/HYPERTENSIONAHA.119.14416. PMID: 31928114

Clinical prediction guides

Carmona-Iragui M, Alcolea D, Barroeta I, Videla L, Muñoz L, Van Pelt KL, Schmitt FA, Lightner DD, Koehl LM, Jicha G, Sacco S, Mircher C, Pape SE, Hithersay R, Clare ICH, Holland AJ, Nübling G, Levin J, Zaman SH, Strydom A, Rebillat AS, Head E, Blesa R, Lleó A, Fortea J
Lancet Neurol 2021 Aug;20(8):605-614. doi: 10.1016/S1474-4422(21)00129-0. PMID: 34302785
Zammit MD, Tudorascu DL, Laymon CM, Hartley SL, Ellison PA, Zaman SH, Ances BM, Johnson SC, Stone CK, Sabbagh MN, Mathis CA, Klunk WE, Cohen AD, Handen BL, Christian BT
Neuroimage Clin 2021;31:102740. Epub 2021 Jun 24 doi: 10.1016/j.nicl.2021.102740. PMID: 34182407Free PMC Article
Channell MM, Mattie LJ, Hamilton DR, Capone GT, Mahone EM, Sherman SL, Rosser TC, Reeves RH, Kalb LG; Down Syndrome Cognition Project.
J Neurodev Disord 2021 Apr 19;13(1):16. doi: 10.1186/s11689-021-09365-2. PMID: 33874886Free PMC Article
Flores-Aguilar L, Iulita MF, Kovecses O, Torres MD, Levi SM, Zhang Y, Askenazi M, Wisniewski T, Busciglio J, Cuello AC
Brain 2020 Dec 1;143(12):3653-3671. doi: 10.1093/brain/awaa326. PMID: 33206953Free PMC Article
Santoro JD, Lee S, Mlynash M, Mayne EW, Rafii MS, Skotko BG
Hypertension 2020 Mar;75(3):819-825. Epub 2020 Jan 13 doi: 10.1161/HYPERTENSIONAHA.119.14416. PMID: 31928114

Recent systematic reviews

Huete-García A, Otaola-Barranquero M
Int J Environ Res Public Health 2021 Jan 5;18(1) doi: 10.3390/ijerph18010352. PMID: 33466470Free PMC Article
Gandy KC, Castillo HA, Ouellette L, Castillo J, Lupo PJ, Jacola LM, Rabin KR, Raghubar KP, Gramatges MM
PLoS One 2020;15(9):e0239040. Epub 2020 Sep 11 doi: 10.1371/journal.pone.0239040. PMID: 32915911Free PMC Article
Capone G, Stephens M, Santoro S, Chicoine B, Bulova P, Peterson M, Jasien J, Smith AJ; Down Syndrome Medical Interest Group (DSMIG-USA) Adult Health Workgroup.
Am J Med Genet A 2020 Jul;182(7):1832-1845. Epub 2020 Apr 27 doi: 10.1002/ajmg.a.61604. PMID: 32338447
Krishnamurthy R, Ramani SA
Int J Pediatr Otorhinolaryngol 2020 Jun;133:109946. Epub 2020 Feb 14 doi: 10.1016/j.ijporl.2020.109946. PMID: 32087479
Dumortier L, Bricout VA
Neurosci Biobehav Rev 2020 Jan;108:124-138. Epub 2019 Nov 7 doi: 10.1016/j.neubiorev.2019.10.018. PMID: 31706958

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