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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
Full monosomy 21: echocardiographic findings in the third molecularly confirmed case.
Fisher D, Dipietro A, Murdison KA, Lemieux CA
Pediatr Cardiol 2013 Mar;34(3):733-5. Epub 2012 May 6 doi: 10.1007/s00246-012-0334-4. PMID: 22562777
Double trisomy in spontaneous abortions.
Reddy KS
Hum Genet 1997 Dec;101(3):339-45. doi: 10.1007/s004390050638. PMID: 9439664

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
Developmental potential of aneuploid human embryos cultured beyond implantation.
Shahbazi MN, Wang T, Tao X, Weatherbee BAT, Sun L, Zhan Y, Keller L, Smith GD, Pellicer A, Scott RT Jr, Seli E, Zernicka-Goetz M
Nat Commun 2020 Aug 10;11(1):3987. doi: 10.1038/s41467-020-17764-7. PMID: 32778678Free PMC Article
Prenatal diagnosis of partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis.
Chen YC, Wu WJ, Chang SP, Ma GC, Chen M
Taiwan J Obstet Gynecol 2020 Jan;59(1):157-161. doi: 10.1016/j.tjog.2019.11.027. PMID: 32039787
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
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21.
Cardoso LC, Moraes L, Camilo MJ, Mulatinho MV, Ramos H, Almeida JC, Llerena JC Jr, Seuánez HN, Vargas FR
Eur J Med Genet 2008 Nov-Dec;51(6):588-97. Epub 2008 Jul 12 doi: 10.1016/j.ejmg.2008.06.008. PMID: 18674646

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
Monosomy 21 in hematologic diseases.
Van Dyke DL, Wiktor A
Cancer Genet Cytogenet 2003 Apr 15;142(2):137-41. doi: 10.1016/s0165-4608(02)00796-3. PMID: 12699891
Four novel non-random chromosome rearrangements in B-cell chronic lymphocytic leukaemia: 6p24-25 and 12p12-13 translocations, 4q21 anomalies and monosomy 21.
Cuneo A, Roberti MG, Bigoni R, Minotto C, Bardi A, Milani R, Tieghi A, Campioni D, Cavazzini F, De Angeli C, Negrini M, Castoldi G
Br J Haematol 2000 Mar;108(3):559-64. doi: 10.1046/j.1365-2141.2000.01898.x. PMID: 10759714

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
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
Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14', 15, and 21 leading to balanced and unbalanced rearrangements in offspring.
Soler A, Sánchez A, Carrió A, Badenas C, Milà M, Margarit E, Borrell A
Am J Med Genet A 2005 Apr 30;134(3):309-14. doi: 10.1002/ajmg.a.30640. PMID: 15732062
Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21.
Hertz B, Brandt CA, Petersen MB, Pedersen S, König U, Strømkjaer H, Jensen PK
Clin Genet 1993 Aug;44(2):89-94. doi: 10.1111/j.1399-0004.1993.tb03853.x. PMID: 7506129

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
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
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
A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings.
Mori MA, Lapunzina P, Delicado A, Núñez G, Rodríguez JI, de Torres ML, Herrero F, Valverde E, López-Pajares I
Am J Med Genet A 2004 May 15;127A(1):69-73. doi: 10.1002/ajmg.a.20622. PMID: 15103721
Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation.
Cantu JM, Hernandez A, Plascencia L, Vaca G, Moller M, Rivera H
Ann Genet 1980;23(3):183-6. PMID: 6448566

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