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Trisomy 2

MedGen UID:
162872
•Concept ID:
C0795801
•
Disease or Syndrome

Definition

A chromosomal abnormality consisting of the presence of a third copy of chromosome 2 in somatic cells. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrisomy 2

Professional guidelines

PubMed

Isolated ictal apnea in neonatal age: Clinical features and treatment options. A systematic review.
Falsaperla R, Consentino MC, Vitaliti G, Marino S, Ruggieri M
Auton Neurosci 2022 Dec;243:103034. Epub 2022 Sep 14 doi: 10.1016/j.autneu.2022.103034. PMID: 36174277
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.
Liang B, Yu D, Zhao W, Wang Y, Wang X, Wu X, Chen L, Chen M, Zhang M, Chen X, Lin N, Huang H, Xu L
J Hum Genet 2022 Nov;67(11):629-638. Epub 2022 Jul 27 doi: 10.1038/s10038-022-01062-9. PMID: 35896820
Detection Rates for Aneuploidy by First-Trimester and Sequential Screening.
Baer RJ, Flessel MC, Jelliffe-Pawlowski LL, Goldman S, Hudgins L, Hull AD, Norton ME, Currier RJ
Obstet Gynecol 2015 Oct;126(4):753-759. doi: 10.1097/AOG.0000000000001040. PMID: 26348180

Recent clinical studies

Etiology

Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing.
Talantova OE, Koltsova AS, Tikhonov AV, Pendina AA, Malysheva OV, Tarasenko OA, Vashukova ES, Shabanova ES, Golubeva AV, Chiryaeva OG, Glotov AS, Bespalova ON, Efimova OA
Genes (Basel) 2023 Apr 14;14(4) doi: 10.3390/genes14040913. PMID: 37107671Free PMC Article
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.
Liang B, Yu D, Zhao W, Wang Y, Wang X, Wu X, Chen L, Chen M, Zhang M, Chen X, Lin N, Huang H, Xu L
J Hum Genet 2022 Nov;67(11):629-638. Epub 2022 Jul 27 doi: 10.1038/s10038-022-01062-9. PMID: 35896820
Chromosomal abnormalities associated with neural tube defects (I): full aneuploidy.
Chen CP
Taiwan J Obstet Gynecol 2007 Dec;46(4):325-35. doi: 10.1016/S1028-4559(08)60002-9. PMID: 18182338
Prenatal diagnosis of trisomy 2 mosaicism: a case report.
Sifakis S, Velissariou V, Papadopoulou E, Petersen MB, Koumantakis E
Fetal Diagn Ther 2004 Nov-Dec;19(6):488-90. doi: 10.1159/000080160. PMID: 15539872
True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities.
Sago H, Chen E, Conte WJ, Cox VA, Goldberg JD, Lebo RV, Golabi M
Am J Med Genet 1997 Oct 31;72(3):343-6. doi: 10.1002/(sici)1096-8628(19971031)72:3<343::aid-ajmg18>3.0.co;2-t. PMID: 9332667

Diagnosis

Mosaicism for trisomy 2 in a single colony at amniocentesis in a pregnancy with a favorable outcome and cytogenetic discrepancy at different amniocenteses.
Chen CP
Taiwan J Obstet Gynecol 2023 Sep;62(5):779-781. doi: 10.1016/j.tjog.2023.07.027. PMID: 37679014
Isolated ictal apnea in neonatal age: Clinical features and treatment options. A systematic review.
Falsaperla R, Consentino MC, Vitaliti G, Marino S, Ruggieri M
Auton Neurosci 2022 Dec;243:103034. Epub 2022 Sep 14 doi: 10.1016/j.autneu.2022.103034. PMID: 36174277
Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis.
Chen CP, Su YN, Chern SR, Chen YT, Wu PS, Su JW, Pan CW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):603-11. doi: 10.1016/j.tjog.2012.09.016. PMID: 23276565
Chromosomal abnormalities associated with neural tube defects (I): full aneuploidy.
Chen CP
Taiwan J Obstet Gynecol 2007 Dec;46(4):325-35. doi: 10.1016/S1028-4559(08)60002-9. PMID: 18182338
Prenatal diagnosis of trisomy 2 mosaicism: a case report.
Sifakis S, Velissariou V, Papadopoulou E, Petersen MB, Koumantakis E
Fetal Diagn Ther 2004 Nov-Dec;19(6):488-90. doi: 10.1159/000080160. PMID: 15539872

Therapy

Isolated ictal apnea in neonatal age: Clinical features and treatment options. A systematic review.
Falsaperla R, Consentino MC, Vitaliti G, Marino S, Ruggieri M
Auton Neurosci 2022 Dec;243:103034. Epub 2022 Sep 14 doi: 10.1016/j.autneu.2022.103034. PMID: 36174277
High hyperdiploidy among adolescents and adults with acute lymphoblastic leukaemia (ALL): cytogenetic features, clinical characteristics and outcome.
Chilton L, Buck G, Harrison CJ, Ketterling RP, Rowe JM, Tallman MS, Goldstone AH, Fielding AK, Moorman AV
Leukemia 2014 Jul;28(7):1511-8. Epub 2013 Dec 19 doi: 10.1038/leu.2013.379. PMID: 24352198
Uterine neuroectodermal tumor with ependymoblastic features in an infant with clonal +del (2)(q11.2),-13: a possible role of increased gene dosage on 2pter-2q11.2 in the tumorigenesis.
Donner LR
Pediatr Dev Pathol 2012 May-Jun;15(3):226-31. Epub 2011 Aug 4 doi: 10.2350/10-12-0948-CR.1. PMID: 21815817
Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation.
Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholme J
Prenat Diagn 1996 Oct;16(10):958-62. doi: 10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD971>3.0.CO;2-U. PMID: 8938070
Morphological and cytogenetic studies of angiosarcoma in Stewart-Treves syndrome.
Kindblom LG, Stenman G, Angervall L
Virchows Arch A Pathol Anat Histopathol 1991;419(5):439-45. doi: 10.1007/BF01605079. PMID: 1750189

Prognosis

Do somatic mutations in de novo MDS predict for response to treatment?
Schroeder MA, DeZern AE
Hematology Am Soc Hematol Educ Program 2015;2015:317-28. doi: 10.1182/asheducation-2015.1.317. PMID: 26637739
Isolated trisomy 2 in bone marrows of patients with suspected hematopoietic malignancies.
Aypar U, Reichard KK, Waltman LA, Van Dyke DL
Cancer Genet 2014 Apr;207(4):124-7. Epub 2014 Mar 4 doi: 10.1016/j.cancergen.2014.02.011. PMID: 24736057
Outcome of pregnancies with trisomy 2 cells in chorionic villi.
Sifakis S, Staboulidou I, Maiz N, Velissariou V, Nicolaides KH
Prenat Diagn 2010 Apr;30(4):329-32. doi: 10.1002/pd.2457. PMID: 20120006
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.
Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK
Am J Hum Genet 1997 Apr;60(4):917-27. PMID: 9106539Free PMC Article
Cytogenetics of non-Hodgkin's lymphoma.
Levine EG, Bloomfield CD
J Natl Cancer Inst Monogr 1990;(10):7-12. PMID: 2189479

Clinical prediction guides

Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.
Liang B, Yu D, Zhao W, Wang Y, Wang X, Wu X, Chen L, Chen M, Zhang M, Chen X, Lin N, Huang H, Xu L
J Hum Genet 2022 Nov;67(11):629-638. Epub 2022 Jul 27 doi: 10.1038/s10038-022-01062-9. PMID: 35896820
Nonkeratinizing Nasopharyngeal Carcinoma, Undifferentiated Type With Trisomy 2: A Case Report and Short Review of Cytogenetic and Molecular Literature.
Pontoriero F, Silverman AM, Pascasio JM, Bajaj R
Pediatr Dev Pathol 2020 Nov-Dec;23(6):448-452. Epub 2020 Aug 5 doi: 10.1177/1093526620945861. PMID: 32755442
Do somatic mutations in de novo MDS predict for response to treatment?
Schroeder MA, DeZern AE
Hematology Am Soc Hematol Educ Program 2015;2015:317-28. doi: 10.1182/asheducation-2015.1.317. PMID: 26637739
Outcome of pregnancies with trisomy 2 cells in chorionic villi.
Sifakis S, Staboulidou I, Maiz N, Velissariou V, Nicolaides KH
Prenat Diagn 2010 Apr;30(4):329-32. doi: 10.1002/pd.2457. PMID: 20120006
Cytogenetics of non-Hodgkin's lymphoma.
Levine EG, Bloomfield CD
J Natl Cancer Inst Monogr 1990;(10):7-12. PMID: 2189479

Recent systematic reviews

Isolated ictal apnea in neonatal age: Clinical features and treatment options. A systematic review.
Falsaperla R, Consentino MC, Vitaliti G, Marino S, Ruggieri M
Auton Neurosci 2022 Dec;243:103034. Epub 2022 Sep 14 doi: 10.1016/j.autneu.2022.103034. PMID: 36174277

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