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Trisomy 22

MedGen UID:
82711
•Concept ID:
C0265490
•
Disease or Syndrome
Synonyms: Chromosome 22, trisomy; Duplication 22
SNOMED CT: Complete trisomy 22 syndrome (71703005); Trisomy 22 (205655003)
 
Monarch Initiative: MONDO:0022759

Definition

A chromosomal abnormality consisting of the presence of a third copy of chromosome 22 in somatic cells. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrisomy 22

Professional guidelines

PubMed

Enhanced First Trimester Aneuploidy Screening with Placental Growth Factor and Alpha Feto-Protein: Detection of Trisomies 18 and 13.
Huang T, Meschino WS, Rashid S, Dennis A, Mak-Tam E, Cuckle H
J Obstet Gynaecol Can 2018 Oct;40(10):1295-1301. Epub 2018 Jul 17 doi: 10.1016/j.jogc.2018.01.007. PMID: 30025867
Comparison of multiple-marker screening with amniocentesis for the detection of fetal aneuploidy in women > or = 35 years old.
Wenstrom KD, Desai R, Owen J, DuBard MB, Boots L
Am J Obstet Gynecol 1995 Oct;173(4):1287-92. doi: 10.1016/0002-9378(95)91372-6. PMID: 7485339
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.
Rhoads GG, Jackson LG, Schlesselman SE, de la Cruz FF, Desnick RJ, Golbus MS, Ledbetter DH, Lubs HA, Mahoney MJ, Pergament E
N Engl J Med 1989 Mar 9;320(10):609-17. doi: 10.1056/NEJM198903093201001. PMID: 2645520

Recent clinical studies

Therapy

Comparison of therapy-related and de novo core binding factor acute myeloid leukemia: A bone marrow pathology group study.
Rogers HJ, Wang X, Xie Y, Davis AR, Thakral B, Wang SA, Borthakur G, Cantu MD, Margolskee EM, Philip JKS, Sukhanova M, Bagg A, Bueso-Ramos CE, Orazi A, Arber DA, Hsi ED, Hasserjian RP
Am J Hematol 2020 Jul;95(7):799-808. Epub 2020 Apr 20 doi: 10.1002/ajh.25814. PMID: 32249963
Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG).
Paschka P, Du J, Schlenk RF, Gaidzik VI, Bullinger L, Corbacioglu A, Späth D, Kayser S, Schlegelberger B, Krauter J, Ganser A, Köhne CH, Held G, von Lilienfeld-Toal M, Kirchen H, Rummel M, Götze K, Horst HA, Ringhoffer M, Lübbert M, Wattad M, Salih HR, Kündgen A, Döhner H, Döhner K
Blood 2013 Jan 3;121(1):170-7. Epub 2012 Oct 31 doi: 10.1182/blood-2012-05-431486. PMID: 23115274
Association between different morphological types and abnormal karyotypes in early pregnancy loss.
Angiolucci M, Murru R, Melis G, Carcassi C, Mais V
Ultrasound Obstet Gynecol 2011 Feb;37(2):219-25. Epub 2010 May 11 doi: 10.1002/uog.7681. PMID: 20503243
Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization.
Wolstenholme J
Prenat Diagn 1996 Jun;16(6):511-24. doi: 10.1002/(SICI)1097-0223(199606)16:6<511::AID-PD904>3.0.CO;2-8. PMID: 8809892
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.
Rhoads GG, Jackson LG, Schlesselman SE, de la Cruz FF, Desnick RJ, Golbus MS, Ledbetter DH, Lubs HA, Mahoney MJ, Pergament E
N Engl J Med 1989 Mar 9;320(10):609-17. doi: 10.1056/NEJM198903093201001. PMID: 2645520

Prognosis

Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis.
Nardelli A, Laskoski LV, Luiz AF, Silveira MAD, d'Arce LPG
BMC Med Genomics 2023 Nov 13;16(1):286. doi: 10.1186/s12920-023-01709-2. PMID: 37957608Free PMC Article
Non-mosaic trisomy 22 and congenital heart surgery using the shared decision making model: a case report.
Phung V, Singh KE, Danon S, Tan CA, Dabagh S
BMC Pediatr 2023 Mar 18;23(1):122. doi: 10.1186/s12887-023-03949-8. PMID: 36932325Free PMC Article
Rare autosomal trisomies: Important and not so rare.
Scott F, Bonifacio M, Sandow R, Ellis K, Smet ME, McLennan A
Prenat Diagn 2018 Sep;38(10):765-771. Epub 2018 Jul 17 doi: 10.1002/pd.5325. PMID: 29956348
Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.
Abdelgadir D, Nowaczyk MJ, Li C
Am J Med Genet A 2013 May;161A(5):1126-31. Epub 2013 Mar 25 doi: 10.1002/ajmg.a.35812. PMID: 23529842
Complete trisomy 22.
Shokeir MH
Clin Genet 1978 Sep;14(3):139-46. doi: 10.1111/j.1399-0004.1978.tb02119.x. PMID: 568044

Clinical prediction guides

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Trevisan V, Meroni A, Leoni C, Sirchia F, Politano D, Fiandrino G, Giorgio V, Rigante D, Limongelli D, Perri L, Sforza E, Leonardi F, Viscogliosi G, Contaldo I, Orteschi D, Proietti L, Zampino G, Onesimo R
Genes (Basel) 2024 Mar 8;15(3) doi: 10.3390/genes15030346. PMID: 38540405Free PMC Article
Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis.
Nardelli A, Laskoski LV, Luiz AF, Silveira MAD, d'Arce LPG
BMC Med Genomics 2023 Nov 13;16(1):286. doi: 10.1186/s12920-023-01709-2. PMID: 37957608Free PMC Article
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
Rare autosomal trisomies: Important and not so rare.
Scott F, Bonifacio M, Sandow R, Ellis K, Smet ME, McLennan A
Prenat Diagn 2018 Sep;38(10):765-771. Epub 2018 Jul 17 doi: 10.1002/pd.5325. PMID: 29956348
Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization.
Wolstenholme J
Prenat Diagn 1996 Jun;16(6):511-24. doi: 10.1002/(SICI)1097-0223(199606)16:6<511::AID-PD904>3.0.CO;2-8. PMID: 8809892

Recent systematic reviews

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Trevisan V, Meroni A, Leoni C, Sirchia F, Politano D, Fiandrino G, Giorgio V, Rigante D, Limongelli D, Perri L, Sforza E, Leonardi F, Viscogliosi G, Contaldo I, Orteschi D, Proietti L, Zampino G, Onesimo R
Genes (Basel) 2024 Mar 8;15(3) doi: 10.3390/genes15030346. PMID: 38540405Free PMC Article

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