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Trisomy 21 Mosaicism

MedGen UID:
1642824
•Concept ID:
C1406727
•
Cell or Molecular Dysfunction
Synonym: Mosaicism for Trisomy 21

Definition

The presence of cells with and without three copies of chromosome 21 in either somatic or germinal tissue. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrisomy 21 Mosaicism

Professional guidelines

PubMed

Prenatal Diagnostic Value of Chromosomal Microarray in Fetuses with Nuchal Translucency Greater than 2.5 mm.
Zhang Z, Hu T, Wang J, Li Q, Wang H, Liu S
Biomed Res Int 2019;2019:6504159. Epub 2019 Oct 3 doi: 10.1155/2019/6504159. PMID: 32908864Free PMC Article
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

Recent clinical studies

Etiology

Low-degree trisomy 21 mosaicism promotes early-onset Alzheimer disease.
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
Role of Trisomy 21 Mosaicism in Sporadic and Familial Alzheimer's Disease.
Potter H, Granic A, Caneus J
Curr Alzheimer Res 2016;13(1):7-17. doi: 10.2174/156720501301151207100616. PMID: 26651340Free PMC Article
Trisomy 21 mosaicism and maternal age.
Morris JK
Am J Med Genet A 2012 Oct;158A(10):2482-4. Epub 2012 Aug 17 doi: 10.1002/ajmg.a.35571. PMID: 22903903
Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature.
Sandoval C, Pine SR, Guo Q, Sastry S, Stewart J, Kronn D, Jayabose S
Pediatr Blood Cancer 2005 Jan;44(1):85-91. doi: 10.1002/pbc.20161. PMID: 15390279
Parental trisomy 21 mosaicism.
Harris DJ, Begleiter ML, Chamberlin J, Hankins L, Magenis RE
Am J Hum Genet 1982 Jan;34(1):125-33. PMID: 6211090Free PMC Article

Diagnosis

Low-degree trisomy 21 mosaicism promotes early-onset Alzheimer disease.
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
Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?
Miranda J, Paz Y Miño F, Borobio V, Badenas C, Rodriguez-Revenga L, Pauta M, Borrell A
Ultrasound Obstet Gynecol 2020 May;55(5):645-651. Epub 2020 Apr 7 doi: 10.1002/uog.20397. PMID: 31301176
Trisomy 21 mosaicism and maternal age.
Morris JK
Am J Med Genet A 2012 Oct;158A(10):2482-4. Epub 2012 Aug 17 doi: 10.1002/ajmg.a.35571. PMID: 22903903
Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature.
Sandoval C, Pine SR, Guo Q, Sastry S, Stewart J, Kronn D, Jayabose S
Pediatr Blood Cancer 2005 Jan;44(1):85-91. doi: 10.1002/pbc.20161. PMID: 15390279
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

Effects of antidepressants on longevity and dementia onset among adults with Down syndrome: a retrospective study.
Tsiouris JA, Patti PJ, Flory MJ
J Clin Psychiatry 2014 Jul;75(7):731-7. doi: 10.4088/JCP.13m08562. PMID: 25007424
Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature.
Sandoval C, Pine SR, Guo Q, Sastry S, Stewart J, Kronn D, Jayabose S
Pediatr Blood Cancer 2005 Jan;44(1):85-91. doi: 10.1002/pbc.20161. PMID: 15390279
Cutaneous pustular leukemoid reactions in trisomy 21.
Burch JM, Weston WL, Rogers M, Morelli JG
Pediatr Dermatol 2003 May-Jun;20(3):232-7. doi: 10.1046/j.1525-1470.2003.20310.x. PMID: 12787273

Prognosis

Low-degree trisomy 21 mosaicism promotes early-onset Alzheimer disease.
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
Role of Trisomy 21 Mosaicism in Sporadic and Familial Alzheimer's Disease.
Potter H, Granic A, Caneus J
Curr Alzheimer Res 2016;13(1):7-17. doi: 10.2174/156720501301151207100616. PMID: 26651340Free PMC Article
Trisomy 21 mosaicism: we may all have a touch of Down syndrome.
Hultén MA, Jonasson J, Iwarsson E, Uppal P, Vorsanova SG, Yurov YB, Iourov IY
Cytogenet Genome Res 2013;139(3):189-92. Epub 2013 Jan 10 doi: 10.1159/000346028. PMID: 23306383
Transient leukemia in newborns with Down syndrome.
Massey GV
Pediatr Blood Cancer 2005 Jan;44(1):29-32. doi: 10.1002/pbc.20141. PMID: 15558701
Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature.
Sandoval C, Pine SR, Guo Q, Sastry S, Stewart J, Kronn D, Jayabose S
Pediatr Blood Cancer 2005 Jan;44(1):85-91. doi: 10.1002/pbc.20161. PMID: 15390279

Clinical prediction guides

Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?
Miranda J, Paz Y Miño F, Borobio V, Badenas C, Rodriguez-Revenga L, Pauta M, Borrell A
Ultrasound Obstet Gynecol 2020 May;55(5):645-651. Epub 2020 Apr 7 doi: 10.1002/uog.20397. PMID: 31301176
On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model.
Hultén MA, Patel S, Jonasson J, Iwarsson E
Reproduction 2010 Jan;139(1):1-9. doi: 10.1530/REP-09-0088. PMID: 19755486
The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues.
Papavassiliou P, York TP, Gursoy N, Hill G, Nicely LV, Sundaram U, McClain A, Aggen SH, Eaves L, Riley B, Jackson-Cook C
Am J Med Genet A 2009 Feb 15;149A(4):573-83. doi: 10.1002/ajmg.a.32729. PMID: 19291777Free PMC Article
Tetrasomy 21 transient leukemia with a GATA1 mutation in a phenotypically normal trisomy 21 mosaic infant: case report and review of the literature.
Sandoval C, Pine SR, Guo Q, Sastry S, Stewart J, Kronn D, Jayabose S
Pediatr Blood Cancer 2005 Jan;44(1):85-91. doi: 10.1002/pbc.20161. PMID: 15390279
Down's syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis.
Fong CT, Brodeur GM
Cancer Genet Cytogenet 1987 Sep;28(1):55-76. doi: 10.1016/0165-4608(87)90354-2. PMID: 2955886

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