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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

Professional guidelines

PubMed

Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.
Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525
Diagnosis and management of Down syndrome.
Agarwal Gupta N, Kabra M
Indian J Pediatr 2014 Jun;81(6):560-7. Epub 2013 Oct 15 doi: 10.1007/s12098-013-1249-7. PMID: 24127006
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus.
Dimopoulos K, Constantine A, Clift P, Condliffe R, Moledina S, Jansen K, Inuzuka R, Veldtman GR, Cua CL, Tay ELW, Opotowsky AR, Giannakoulas G, Alonso-Gonzalez R, Cordina R, Capone G, Namuyonga J, Scott CH, D'Alto M, Gamero FJ, Chicoine B, Gu H, Limsuwan A, Majekodunmi T, Budts W, Coghlan G, Broberg CS; for Down Syndrome International (DSi)
Circulation 2023 Jan 31;147(5):425-441. Epub 2023 Jan 30 doi: 10.1161/CIRCULATIONAHA.122.059706. PMID: 36716257Free PMC Article
Alzheimer's disease associated with Down syndrome: a genetic form of dementia.
Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona-Iragui M
Lancet Neurol 2021 Nov;20(11):930-942. doi: 10.1016/S1474-4422(21)00245-3. PMID: 34687637Free PMC Article
Down syndrome.
Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH
Nat Rev Dis Primers 2020 Feb 6;6(1):9. doi: 10.1038/s41572-019-0143-7. PMID: 32029743Free PMC Article
Endocrine manifestations of Down syndrome.
Whooten R, Schmitt J, Schwartz A
Curr Opin Endocrinol Diabetes Obes 2018 Feb;25(1):61-66. doi: 10.1097/MED.0000000000000382. PMID: 29135488Free PMC Article
Down syndrome--genetic and nutritional aspects of accompanying disorders.
Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113

Diagnosis

Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus.
Dimopoulos K, Constantine A, Clift P, Condliffe R, Moledina S, Jansen K, Inuzuka R, Veldtman GR, Cua CL, Tay ELW, Opotowsky AR, Giannakoulas G, Alonso-Gonzalez R, Cordina R, Capone G, Namuyonga J, Scott CH, D'Alto M, Gamero FJ, Chicoine B, Gu H, Limsuwan A, Majekodunmi T, Budts W, Coghlan G, Broberg CS; for Down Syndrome International (DSi)
Circulation 2023 Jan 31;147(5):425-441. Epub 2023 Jan 30 doi: 10.1161/CIRCULATIONAHA.122.059706. PMID: 36716257Free PMC Article
Autism and Down syndrome: early identification and diagnosis.
Diniz NLF, Parlato-Oliveira E, Pimenta PGA, Araújo LA, Valadares ER
Arq Neuropsiquiatr 2022 Jun;80(6):620-630. doi: 10.1590/0004-282X-ANP-2021-0156. PMID: 35946706Free PMC Article
Endocrine manifestations of Down syndrome.
Whooten R, Schmitt J, Schwartz A
Curr Opin Endocrinol Diabetes Obes 2018 Feb;25(1):61-66. doi: 10.1097/MED.0000000000000382. PMID: 29135488Free PMC Article
Down syndrome--genetic and nutritional aspects of accompanying disorders.
Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113
Down's syndrome.
Roizen NJ, Patterson D
Lancet 2003 Apr 12;361(9365):1281-9. doi: 10.1016/S0140-6736(03)12987-X. PMID: 12699967

Therapy

Down syndrome regression disorder: updates and therapeutic advances.
Santoro JD, Filipink RA, Baumer NT, Bulova PD, Handen BL
Curr Opin Psychiatry 2023 Mar 1;36(2):96-103. Epub 2022 Dec 29 doi: 10.1097/YCO.0000000000000845. PMID: 36705008
Neuromuscular exercise in children with Down Syndrome: a systematic review.
Rodríguez-Grande EI, Vargas-Pinilla OC, Torres-Narvaez MR, Rodríguez-Malagón N
Sci Rep 2022 Sep 2;12(1):14988. doi: 10.1038/s41598-022-19086-8. PMID: 36056081Free PMC Article
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876
Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis.
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
Risk factors for Down syndrome.
Coppedè F
Arch Toxicol 2016 Dec;90(12):2917-2929. Epub 2016 Sep 7 doi: 10.1007/s00204-016-1843-3. PMID: 27600794

Prognosis

Trisomy 21 - incidence, diagnostics and pregnancy terminations 1999-2018.
Aasen HM, Solberg B, Stangenes KM, Nøhr EA, Eggebø TM
Tidsskr Nor Laegeforen 2021 Dec 14;141(18) Epub 2021 Dec 10 doi: 10.4045/tidsskr.21.0221. PMID: 34911275
Nutritional challenges in children and adolescents with Down syndrome.
Nordstrøm M, Retterstøl K, Hope S, Kolset SO
Lancet Child Adolesc Health 2020 Jun;4(6):455-464. doi: 10.1016/S2352-4642(19)30400-6. PMID: 32450124
Endocrine manifestations of Down syndrome.
Whooten R, Schmitt J, Schwartz A
Curr Opin Endocrinol Diabetes Obes 2018 Feb;25(1):61-66. doi: 10.1097/MED.0000000000000382. PMID: 29135488Free PMC Article
What people with Down Syndrome can teach us about cardiopulmonary disease.
Colvin KL, Yeager ME
Eur Respir Rev 2017 Jan;26(143) Epub 2017 Feb 21 doi: 10.1183/16000617.0098-2016. PMID: 28223397Free PMC Article
The electrocardiogram in Down syndrome.
Caro M, Conde D, Pérez-Riera AR, de Almeida AP, Baranchuk A
Cardiol Young 2015 Jan;25(1):8-14. Epub 2014 Apr 2 doi: 10.1017/S1047951114000420. PMID: 24690318

Clinical prediction guides

Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition.
Galbraith MD, Rachubinski AL, Smith KP, Araya P, Waugh KA, Enriquez-Estrada B, Worek K, Granrath RE, Kinning KT, Paul Eduthan N, Ludwig MP, Hsieh EWY, Sullivan KD, Espinosa JM
Sci Adv 2023 Jun 28;9(26):eadg6218. doi: 10.1126/sciadv.adg6218. PMID: 37379383Free PMC Article
Lung disease manifestations in Down syndrome.
Danopoulos S, Deutsch GH, Dumortier C, Mariani TJ, Al Alam D
Am J Physiol Lung Cell Mol Physiol 2021 Nov 1;321(5):L892-L899. Epub 2021 Sep 1 doi: 10.1152/ajplung.00434.2020. PMID: 34469245Free PMC Article
Maternal age in the epidemiology of common autosomal trisomies.
Cuckle H, Morris J
Prenat Diagn 2021 Apr;41(5):573-583. Epub 2020 Oct 19 doi: 10.1002/pd.5840. PMID: 33078428
Ageing and Down syndrome: Neurocognitive characteristics and pharmacological treatment.
Malegiannaki AC, Katsarou D, Liolios A, Zisi V
Hell J Nucl Med 2019 Jan-Apr;22 Suppl:123-132. PMID: 30877730
Mosaicism for trisomy 21: a review.
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

Autism and Down syndrome: early identification and diagnosis.
Diniz NLF, Parlato-Oliveira E, Pimenta PGA, Araújo LA, Valadares ER
Arq Neuropsiquiatr 2022 Jun;80(6):620-630. doi: 10.1590/0004-282X-ANP-2021-0156. PMID: 35946706Free PMC Article
Restless sleep in children: A systematic review.
DelRosso LM, Picchietti DL, Spruyt K, Bruni O, Garcia-Borreguero D, Kotagal S, Owens JA, Simakajornboon N, Ferri R; International Restless Legs Syndrome Study Group (IRLSSG)
Sleep Med Rev 2021 Apr;56:101406. Epub 2020 Dec 1 doi: 10.1016/j.smrv.2020.101406. PMID: 33341437
Neurologic complications of Down syndrome: a systematic review.
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
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876
Augmentative and alternative communication in children with Down's syndrome: a systematic review.
Barbosa RTA, de Oliveira ASB, de Lima Antão JYF, Crocetta TB, Guarnieri R, Antunes TPC, Arab C, Massetti T, Bezerra IMP, de Mello Monteiro CB, de Abreu LC
BMC Pediatr 2018 May 11;18(1):160. doi: 10.1186/s12887-018-1144-5. PMID: 29751828Free PMC Article

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