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Mosaic trisomy 21

MedGen UID:
419386
•Concept ID:
C2931324
•
Cell or Molecular Dysfunction
Synonyms: Chromosome 21, uniparental disomy of; Uniparental disomy of 21
 
Monarch Initiative: MONDO:0700127

Definition

Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism. [from MONDO]

Professional guidelines

PubMed

Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe.
Stumm M, Entezami M, Haug K, Blank C, Wüstemann M, Schulze B, Raabe-Meyer G, Hempel M, Schelling M, Ostermayer E, Langer-Freitag S, Burkhardt T, Zimmermann R, Schleicher T, Weil B, Schöck U, Smerdka P, Grömminger S, Kumar Y, Hofmann W
Prenat Diagn 2014 Feb;34(2):185-91. Epub 2013 Dec 12 doi: 10.1002/pd.4278. PMID: 24222400
Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21.
Brisset S, Aboura A, Audibert F, Costa JM, L'Herminé AC, Gautier V, Frydman R, Tachdjian G
Prenat Diagn 2003 Jun;23(6):461-9. doi: 10.1002/pd.620. PMID: 12813759

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

Low-level mosaic trisomy 21 at amniocentesis can be associated with a favorable pediatric outcome: The follow-up of a child at age 6 years and 4 months.
Chen CP
Taiwan J Obstet Gynecol 2022 May;61(3):557. doi: 10.1016/j.tjog.2022.03.038. PMID: 35595459
Transient myeloproliferative disorder as the presenting feature for mosaic trisomy 21.
Baca N, Sanchez-Lara PA, Schreck R, Eno CC, Majlessipour F
Cold Spring Harb Mol Case Stud 2021 Dec;7(6) Epub 2021 Dec 9 doi: 10.1101/mcs.a006126. PMID: 34789514Free PMC Article
Observed Rate of Down Syndrome in Twin Pregnancies.
Sparks TN, Norton ME, Flessel M, Goldman S, Currier RJ
Obstet Gynecol 2016 Nov;128(5):1127-1133. doi: 10.1097/AOG.0000000000001690. PMID: 27741202
Screening for Hematological Disorders in Mosaic Down Syndrome: Parent Report of Experiences.
Santoro SL, Martin LJ, Hopkin RJ
Clin Pediatr (Phila) 2016 May;55(5):421-7. Epub 2015 Jun 17 doi: 10.1177/0009922815589911. PMID: 26084538
Social conditions for people with Down syndrome: a register-based cohort study in Denmark.
Zhu JL, Obel C, Hasle H, Rasmussen SA, Li J, Olsen J
Am J Med Genet A 2014 Jan;164A(1):36-41. Epub 2013 Nov 22 doi: 10.1002/ajmg.a.36272. PMID: 24273114Free PMC Article

Diagnosis

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome.
Chen CP, Wu FT, Pan YT, Wu PS, Chen WL, Lee CC, Wang W
Taiwan J Obstet Gynecol 2023 Nov;62(6):891-895. doi: 10.1016/j.tjog.2023.09.002. PMID: 38008510
Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.
Chen CP, Hsu TY, Chern SR, Wu PS, Wu FT, Pan YT, Lee CC, Chen WL, Wang W
Taiwan J Obstet Gynecol 2023 Jul;62(4):582-585. doi: 10.1016/j.tjog.2023.05.004. PMID: 37407199
Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Chen CP, Chen SW, Wang LK, Chern SR, Wu PS, Wu FT, Pan YT, Lee CC, Chen LF, Pan CW, Chen YY, Wang W
Taiwan J Obstet Gynecol 2023 Jan;62(1):132-136. doi: 10.1016/j.tjog.2022.01.011. PMID: 36720526
Prenatal diagnosis of maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome.
Chen CP, Liou JD, Chern SR, Wu PS, Chen SW, Wu FT, Lee MS, Chen YY, Wang W
Taiwan J Obstet Gynecol 2022 Jan;61(1):146-149. doi: 10.1016/j.tjog.2021.11.025. PMID: 35181027
Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21.
Brisset S, Aboura A, Audibert F, Costa JM, L'Herminé AC, Gautier V, Frydman R, Tachdjian G
Prenat Diagn 2003 Jun;23(6):461-9. doi: 10.1002/pd.620. PMID: 12813759

Therapy

Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease.
Xia Y, Yang Y, Huang S, Wu Y, Li P, Zhuang J
Prenat Diagn 2018 May;38(6):406-413. Epub 2018 Apr 27 doi: 10.1002/pd.5249. PMID: 29573438
Down syndrome, beta-amyloid and neuroimaging.
Head E, Helman AM, Powell D, Schmitt FA
Free Radic Biol Med 2018 Jan;114:102-109. Epub 2017 Sep 19 doi: 10.1016/j.freeradbiomed.2017.09.013. PMID: 28935420Free PMC Article
Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe.
Stumm M, Entezami M, Haug K, Blank C, Wüstemann M, Schulze B, Raabe-Meyer G, Hempel M, Schelling M, Ostermayer E, Langer-Freitag S, Burkhardt T, Zimmermann R, Schleicher T, Weil B, Schöck U, Smerdka P, Grömminger S, Kumar Y, Hofmann W
Prenat Diagn 2014 Feb;34(2):185-91. Epub 2013 Dec 12 doi: 10.1002/pd.4278. PMID: 24222400
Survival among people with Down syndrome: a nationwide population-based study in Denmark.
Zhu JL, Hasle H, Correa A, Schendel D, Friedman JM, Olsen J, Rasmussen SA
Genet Med 2013 Jan;15(1):64-9. Epub 2012 Aug 9 doi: 10.1038/gim.2012.93. PMID: 22878506Free PMC Article
Influence of advanced age of maternal grandmothers on Down syndrome.
Malini SS, Ramachandra NB
BMC Med Genet 2006 Jan 14;7:4. doi: 10.1186/1471-2350-7-4. PMID: 16412239Free PMC Article

Prognosis

Low-level mosaic trisomy 21 at amniocentesis can be associated with a favorable pediatric outcome: The follow-up of a child at age 6 years and 4 months.
Chen CP
Taiwan J Obstet Gynecol 2022 May;61(3):557. doi: 10.1016/j.tjog.2022.03.038. PMID: 35595459
Survival among people with Down syndrome: a nationwide population-based study in Denmark.
Zhu JL, Hasle H, Correa A, Schendel D, Friedman JM, Olsen J, Rasmussen SA
Genet Med 2013 Jan;15(1):64-9. Epub 2012 Aug 9 doi: 10.1038/gim.2012.93. PMID: 22878506Free PMC Article
Fetal hydrops and hepatosplenomegaly in the second half of pregnancy: a sign of myeloproliferative disorder in fetuses with trisomy 21.
Smrcek JM, Baschat AA, Germer U, Gloeckner-Hofmann K, Gembruch U
Ultrasound Obstet Gynecol 2001 May;17(5):403-9. doi: 10.1046/j.1469-0705.2001.00384.x. PMID: 11380964
A case of apparent trisomy 21 without the Down's syndrome phenotype.
Avramopoulos D, Kennerknecht I, Barbi G, Eckert D, Delabar JM, Maunoury C, Hallberg A, Petersen MB
J Med Genet 1997 Jul;34(7):597-600. doi: 10.1136/jmg.34.7.597. PMID: 9222973Free PMC Article
Dermatoglyphic peculiarities in Down's syndrome detection of mosaicism and balanced translocation carriers.
Rodewald A, Zang KD, Zankl H, Zankl M
Hum Genet Suppl 1981;2:41-56. doi: 10.1007/978-3-642-68006-9_4. PMID: 6218140

Clinical prediction guides

Observed Rate of Down Syndrome in Twin Pregnancies.
Sparks TN, Norton ME, Flessel M, Goldman S, Currier RJ
Obstet Gynecol 2016 Nov;128(5):1127-1133. doi: 10.1097/AOG.0000000000001690. PMID: 27741202
Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe.
Stumm M, Entezami M, Haug K, Blank C, Wüstemann M, Schulze B, Raabe-Meyer G, Hempel M, Schelling M, Ostermayer E, Langer-Freitag S, Burkhardt T, Zimmermann R, Schleicher T, Weil B, Schöck U, Smerdka P, Grömminger S, Kumar Y, Hofmann W
Prenat Diagn 2014 Feb;34(2):185-91. Epub 2013 Dec 12 doi: 10.1002/pd.4278. PMID: 24222400
Lipid peroxidation in Down syndrome caused by regular trisomy 21, trisomy 21 by Robertsonian translocation and mosaic trisomy 21.
Casado A, López-Fernández ME, Ruíz R
Clin Chem Lab Med 2007;45(1):59-62. doi: 10.1515/CCLM.2007.011. PMID: 17243916
Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.
Bruyère H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP
Am J Med Genet 2000 Sep 4;94(1):35-41. doi: 10.1002/1096-8628(20000904)94:1<35::aid-ajmg8>3.0.co;2-9. PMID: 10982480
Dermatoglyphic peculiarities in Down's syndrome detection of mosaicism and balanced translocation carriers.
Rodewald A, Zang KD, Zankl H, Zankl M
Hum Genet Suppl 1981;2:41-56. doi: 10.1007/978-3-642-68006-9_4. PMID: 6218140

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    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

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