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Monosomy 21

MedGen UID:
162883
•Concept ID:
C0795875
•
Disease or Syndrome
Synonym: Chromosome 21 monosomy
 
Monarch Initiative: MONDO:0018930
Orphanet: ORPHA574

Definition

Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMonosomy 21
Follow this link to review classifications for Monosomy 21 in Orphanet.

Professional guidelines

PubMed

Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT.
Gadsbøll K, Vogel I, Kristensen SE, Pedersen LH, Hyett J, Petersen OB; Danish Cytogenetic Central Register study group
Ultrasound Obstet Gynecol 2024 Oct;64(4):470-479. Epub 2024 Sep 4 doi: 10.1002/uog.27667. PMID: 38642365
Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors.
Bunnell ME, Wilkins-Haug L, Reiss R
Prenat Diagn 2017 Dec;37(13):1273-1280. doi: 10.1002/pd.5185. PMID: 29164644
Implementation and experience of an alternative QF-PCR and MLPA diagnostic strategy to detect chromosomal abnormalities in fetal and neonatal pathology samples.
McClelland LS, Allen SK, Larkins SA, Hamilton SJ, Marton T, Cox PM, Hargitai B, Johnston EH, Morgan C, Hardy G
Pediatr Dev Pathol 2011 Nov-Dec;14(6):460-8. Epub 2011 Aug 29 doi: 10.2350/11-01-0971-OA.1. PMID: 21875355

Recent clinical studies

Etiology

Transcriptomic behavior of genes associated with chromosome 21 aneuploidies in early embryo development.
Sanchez-Ribas I, Diaz-Gimeno P, Sebastián-León P, Mercader A, Quiñonero A, Ballesteros A, Pellicer A, Domínguez F
Fertil Steril 2019 May;111(5):991-1001.e2. Epub 2019 Mar 25 doi: 10.1016/j.fertnstert.2019.01.023. PMID: 30922649
Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors.
Bunnell ME, Wilkins-Haug L, Reiss R
Prenat Diagn 2017 Dec;37(13):1273-1280. doi: 10.1002/pd.5185. PMID: 29164644
Meningioma in Down Syndrome.
Yamamoto T, Shinojima N, Todaka T, Nishikawa S, Yano S, Kuratsu J
World Neurosurg 2015 Sep;84(3):866.e1-6. Epub 2015 Apr 9 doi: 10.1016/j.wneu.2015.03.065. PMID: 25862935
Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia.
de Souza Fernandez T, Ornellas MH, Otero de Carvalho L, Tabak D, Abdelhay E
Leuk Res 2000 Oct;24(10):839-48. doi: 10.1016/s0145-2126(00)00056-4. PMID: 10996202
Study of a patient with apparent monosomy 21 owing to translocation: 45,XX,21-,t(18q+).
Wyandt HE, Hecht F, Lovrien EW, Stewart RE
Cytogenetics 1971;10(6):413-26. doi: 10.1159/000130162. PMID: 5146418

Diagnosis

High-level mosaic monosomy 21 in a 13-year-old girl: Case report and review of the literature.
Viana MM, Vianna GS, Carvalho ERF, da Costa HBBLM, de Aguiar MJB
Am J Med Genet A 2022 Mar;188(3):953-958. Epub 2021 Dec 10 doi: 10.1002/ajmg.a.62583. PMID: 34889506
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G
Eur J Med Genet 2012 May;55(5):362-6. Epub 2012 Apr 24 doi: 10.1016/j.ejmg.2012.03.011. PMID: 22548977
Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21.
Martinez-Garcia M, Ainse E, García-Hoyos M, Bustamante A, Cardero R, Ramos-Corrales C, Trujillo-Tiebas MJ, de Alba MR, Lorda I
J Assist Reprod Genet 2011 Jul;28(7):621-6. Epub 2011 May 4 doi: 10.1007/s10815-011-9569-x. PMID: 21573680Free PMC Article
A case of monosomy 21 found to be an unbalanced de novo t(5p;21q) by fluorescence in situ hybridization.
Flaherty L, Moloney J, Watson N, Robson L, Bousfield L, Smith A
J Intellect Disabil Res 1998 Jun;42 ( Pt 3):254-8. doi: 10.1046/j.1365-2788.1998.00118.x. PMID: 9678410
Thrombocytopenia and cleft hand in monosomy 21.
Vogels A, de Smet L, van den Berghe H, Fryns JP
Genet Couns 1994;5(1):67-71. PMID: 8031538

Therapy

Novel MYCBP::EHD2 and RUNX1::ZNF780A Fusion Genes in T-cell Acute Lymphoblastic Leukemia.
Panagopoulos I, Andersen K, Rinvoll Johannsdottir IM, Micci F, Heim S
Cancer Genomics Proteomics 2023 Jan-Feb;20(1):51-63. doi: 10.21873/cgp.20364. PMID: 36581344Free PMC Article
Differential metabolic profiling of non-pure trisomy 21 human preimplantation embryos.
Sánchez-Ribas I, Riqueros M, Vime P, Puchades-Carrasco L, Jönsson T, Pineda-Lucena A, Ballesteros A, Domínguez F, Simón C
Fertil Steril 2012 Nov;98(5):1157-64.e1-2. Epub 2012 Sep 6 doi: 10.1016/j.fertnstert.2012.07.1145. PMID: 22959456
Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses.
Besson V, Brault V, Duchon A, Togbe D, Bizot JC, Quesniaux VF, Ryffel B, Hérault Y
Hum Mol Genet 2007 Sep 1;16(17):2040-52. Epub 2007 Jun 25 doi: 10.1093/hmg/ddm152. PMID: 17591625
Cytogenetic abnormalities during clinical, immunophenotypic, and molecular remission in pediatric acute lymphoblastic leukemia.
Sandoval C, Mayer SP, Giamelli J, Farley T, Ozkaynak MF, Tugal O, Jayabose S
Cancer Genet Cytogenet 2000 Apr 1;118(1):9-13. doi: 10.1016/s0165-4608(99)00161-2. PMID: 10731583
Partial monosomy 21, diminished activity of superoxide dismutase, and pulmonary oxygen toxicity.
Ackerman AD, Fackler JC, Tuck-Muller CM, Tarpey MM, Freeman BA, Rogers MC
N Engl J Med 1988 Jun 23;318(25):1666-9. doi: 10.1056/NEJM198806233182506. PMID: 3374538

Prognosis

Novel MYCBP::EHD2 and RUNX1::ZNF780A Fusion Genes in T-cell Acute Lymphoblastic Leukemia.
Panagopoulos I, Andersen K, Rinvoll Johannsdottir IM, Micci F, Heim S
Cancer Genomics Proteomics 2023 Jan-Feb;20(1):51-63. doi: 10.21873/cgp.20364. PMID: 36581344Free PMC Article
Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior.
Shirley MD, Frelin L, López JS, Jedlicka A, Dziedzic A, Frank-Crawford MA, Silverman W, Hagopian L, Pevsner J
PLoS One 2016;11(3):e0149646. Epub 2016 Mar 2 doi: 10.1371/journal.pone.0149646. PMID: 26933844Free PMC Article
Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia.
de Souza Fernandez T, Ornellas MH, Otero de Carvalho L, Tabak D, Abdelhay E
Leuk Res 2000 Oct;24(10):839-48. doi: 10.1016/s0145-2126(00)00056-4. PMID: 10996202
Cytogenetic abnormalities in pediatric myelodysplastic syndrome: a report of three cases.
Ma SK, Ha SY, Chan GC, Ching LM, Lau YL, Chan LC
Cancer Genet Cytogenet 1997 Feb;93(2):172-6. doi: 10.1016/s0165-4608(96)00202-6. PMID: 9078304
Chromosome mosaicism in 6,000 amniocenteses.
Wilson MG, Lin MS, Fujimoto A, Herbert W, Kaplan FM
Am J Med Genet 1989 Apr;32(4):506-13. doi: 10.1002/ajmg.1320320417. PMID: 2773995

Clinical prediction guides

High-level mosaic monosomy 21 in a 13-year-old girl: Case report and review of the literature.
Viana MM, Vianna GS, Carvalho ERF, da Costa HBBLM, de Aguiar MJB
Am J Med Genet A 2022 Mar;188(3):953-958. Epub 2021 Dec 10 doi: 10.1002/ajmg.a.62583. PMID: 34889506
Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia.
de Souza Fernandez T, Ornellas MH, Otero de Carvalho L, Tabak D, Abdelhay E
Leuk Res 2000 Oct;24(10):839-48. doi: 10.1016/s0145-2126(00)00056-4. PMID: 10996202
A case of monosomy 21.
Garzicić B, Guć-Sćekić M, Pilić-Radivojević G, Ignjatović M, Vilhar N
Ann Genet 1988;31(4):247-9. PMID: 3265310
Clonal abnormalities in patients with Waldenström's macroglobulinemia with special reference to a Burkitt-type t(8;14).
San Román C, Ferro T, Guzmán M, Odriozola J
Cancer Genet Cytogenet 1985 Oct;18(2):155-8. doi: 10.1016/0165-4608(85)90065-2. PMID: 3931901
"Pure" monosomy 21 pter leads to q21 in a girl born to a couple 46,XX,t(14;21)(p12;q22) and 46,XY,t(5;18)(q32;q22).
Rivera H, Rivas F, Plascencia L, Cantú JM
Ann Genet 1983;26(4):234-7. PMID: 6607704

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