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Complete trisomy 21

MedGen UID:
1624021
•Concept ID:
C4521042
•
Disease or Syndrome
Synonym: Complete trisomy 21 syndrome
 
Monarch Initiative: MONDO:0700030

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]

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
Tapering of SSRI treatment to mitigate withdrawal symptoms.
Horowitz MA, Taylor D
Lancet Psychiatry 2019 Jun;6(6):538-546. Epub 2019 Mar 5 doi: 10.1016/S2215-0366(19)30032-X. PMID: 30850328
Clinical Practice Guideline: Tonsillectomy in Children (Update).
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(1_suppl):S1-S42. doi: 10.1177/0194599818801757. PMID: 30798778

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

Therapy

Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment.
Bornstein E, Lenchner E, Donnenfeld A, Jodicke C, Keeler SM, Kapp S, Divon MY
Am J Obstet Gynecol 2010 Oct;203(4):391.e1-5. Epub 2010 Aug 5 doi: 10.1016/j.ajog.2010.06.019. PMID: 20691415
Doctors' decisions and prognostications for infants with Down syndrome.
Wolraich ML, Siperstein GN, Reed D
Dev Med Child Neurol 1991 Apr;33(4):336-42. doi: 10.1111/j.1469-8749.1991.tb14884.x. PMID: 1710585

Prognosis

Hematological disorders in children with Down syndrome.
Triarico S, Trombatore G, Capozza MA, Romano A, Mastrangelo S, Attinà G, Maurizi P, Ruggiero A
Expert Rev Hematol 2022 Feb;15(2):127-135. Epub 2022 Feb 28 doi: 10.1080/17474086.2022.2044780. PMID: 35184659
Progressive myoclonus epilepsy in Down syndrome patients with dementia.
d'Orsi G, Specchio LM; Apulian Study Group on Senile Myoclonic Epilepsy
J Neurol 2014 Aug;261(8):1584-97. Epub 2014 Jun 4 doi: 10.1007/s00415-014-7376-x. PMID: 24893590
Doctors' decisions and prognostications for infants with Down syndrome.
Wolraich ML, Siperstein GN, Reed D
Dev Med Child Neurol 1991 Apr;33(4):336-42. doi: 10.1111/j.1469-8749.1991.tb14884.x. PMID: 1710585

Clinical prediction guides

Progressive myoclonus epilepsy in Down syndrome patients with dementia.
d'Orsi G, Specchio LM; Apulian Study Group on Senile Myoclonic Epilepsy
J Neurol 2014 Aug;261(8):1584-97. Epub 2014 Jun 4 doi: 10.1007/s00415-014-7376-x. PMID: 24893590
Ophthalmic manifestations of mosaic Down syndrome.
Motley WW 3rd, Saltarelli DP
J AAPOS 2011 Aug;15(4):362-6. doi: 10.1016/j.jaapos.2011.05.003. PMID: 21907120
Overexpression of copper-zinc superoxide dismutase in trisomy 21.
De La Torre R, Casado A, López-Fernández E, Carrascosa D, Ramírez V, Sáez J
Experientia 1996 Sep 15;52(9):871-3. doi: 10.1007/BF01938872. PMID: 8841514
Dermatoglyphic studies in the parents of trisomy 21 children I. Distribution of dermatoglyphic discriminants.
Loesch D
Hum Hered 1981;31(4):201-7. doi: 10.1159/000153208. PMID: 6456982
Structural variation of chromosome 21 and symptoms of Down's syndrome.
Rethoré MO
Hum Genet Suppl 1981;2:173-82. doi: 10.1007/978-3-642-68006-9_13. PMID: 6218134

Supplemental Content

Table of contents

    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, 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

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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