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Trisomy 5

MedGen UID:
274309
•Concept ID:
C1519654
•
Cell or Molecular Dysfunction

Definition

A chromosomal abnormality consisting of the presence of a third copy of chromosome 5 in somatic cells. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrisomy 5

Professional guidelines

PubMed

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review.
Bedei I, Wolter A, Weber A, Signore F, Axt-Fliedner R
Genes (Basel) 2021 Mar 29;12(4) doi: 10.3390/genes12040501. PMID: 33805390Free PMC Article
Multiorgan involvement and management in children with Down syndrome.
Lagan N, Huggard D, Mc Grane F, Leahy TR, Franklin O, Roche E, Webb D, O' Marcaigh A, Cox D, El-Khuffash A, Greally P, Balfe J, Molloy EJ
Acta Paediatr 2020 Jun;109(6):1096-1111. Epub 2020 Jan 24 doi: 10.1111/apa.15153. PMID: 31899550

Recent clinical studies

Etiology

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
Is trisomy 5 a distinct cytogenetic subgroup in acute lymphoblastic leukemia?
Harris RL, Harrison CJ, Martineau M, Taylor KE, Moorman AV
Cancer Genet Cytogenet 2004 Jan 15;148(2):159-62. doi: 10.1016/s0165-4608(03)00272-3. PMID: 14734231
Chromosomal analyses of 52 cases of follicular lymphoma with t(14;18), including blastic/blastoid variant.
Mohamed AN, Palutke M, Eisenberg L, Al-Katib A
Cancer Genet Cytogenet 2001 Apr 1;126(1):45-51. doi: 10.1016/s0165-4608(00)00383-6. PMID: 11343778
Double trisomy in spontaneous abortions.
Reddy KS
Hum Genet 1997 Dec;101(3):339-45. doi: 10.1007/s004390050638. PMID: 9439664
Trisomy 5 and t(5;14)(q11;q32) as the sole abnormalities in two different clones from a centroblastic non-Hodgkin's lymphoma.
Kristoffersson U, Heim S, Mandahl N, Olsson H, Akerman M, Mitelman F
Cancer Genet Cytogenet 1988 Dec;36(2):173-6. doi: 10.1016/0165-4608(88)90141-0. PMID: 3203305

Diagnosis

Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report.
Bonasoni MP, Comitini G, Tonni G, Asioli S, Barbieri V, Rinaldini M, Marinelli M
Fetal Pediatr Pathol 2022 Jun;41(3):516-522. Epub 2020 Oct 14 doi: 10.1080/15513815.2020.1831660. PMID: 33411590
A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.
Reittinger AM, Helm BM, Boles DJ, Gadi IK, Schrier Vergano SA
Am J Med Genet A 2017 Sep;173(9):2528-2533. Epub 2017 Jun 27 doi: 10.1002/ajmg.a.38344. PMID: 28653809
Rapid diagnosis of pseudomosaicism in a case of Level II mosaicism for trisomy 5 in a single colony from an in situ culture of amniocytes and a review of mosaic trisomy 5 at amniocentesis.
Chen CP, Chang SJ, Chern SR, Wu PS, Chen YN, Chen SW, Yang CW, Pan CW, Wang W
Taiwan J Obstet Gynecol 2016 Aug;55(4):602-3. doi: 10.1016/j.tjog.2016.05.005. PMID: 27590391
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
The trisomy (5)(q31-qter) syndrome: study of a family with a t(5:14) translocation.
Elias-Jones AC, Habibi P, Larcher VF, Spencer T, Butler LJ
Arch Dis Child 1988 Apr;63(4):427-31. doi: 10.1136/adc.63.4.427. PMID: 3284482Free PMC Article

Therapy

Chromosome-wide aneuploidy study of cultured circulating myeloid progenitor cells from workers occupationally exposed to formaldehyde.
Lan Q, Smith MT, Tang X, Guo W, Vermeulen R, Ji Z, Hu W, Hubbard AE, Shen M, McHale CM, Qiu C, Liu S, Reiss B, Beane-Freeman L, Blair A, Ge Y, Xiong J, Li L, Rappaport SM, Huang H, Rothman N, Zhang L
Carcinogenesis 2015 Jan;36(1):160-7. Epub 2014 Nov 12 doi: 10.1093/carcin/bgu229. PMID: 25391402Free PMC Article
Chromosome-wide aneuploidy study (CWAS) in workers exposed to an established leukemogen, benzene.
Zhang L, Lan Q, Guo W, Hubbard AE, Li G, Rappaport SM, McHale CM, Shen M, Ji Z, Vermeulen R, Yin S, Rothman N, Smith MT
Carcinogenesis 2011 Apr;32(4):605-12. Epub 2011 Jan 7 doi: 10.1093/carcin/bgq286. PMID: 21216845Free PMC Article
Detection of chromosome-specific aneusomy and translocation by benzene metabolites in human lymphocytes using fluorescence in situ hybridization with DNA probes for chromosomes 5, 7, 8, and 21.
Chung HW, Kim SY
J Toxicol Environ Health A 2002 Mar;65(5-6):365-72. doi: 10.1080/15287390252808037. PMID: 11936217

Prognosis

A pediatric BAL case with double Ph chromosomes and trisomy 5.
Gunden G, Isik S, Ozdemir C, Cİlİngİr O, Bor O, Gokalp EE, Kocagil S, Artan S, Aras BD
Cancer Genet 2021 Nov;258-259:7-9. Epub 2021 Jun 22 doi: 10.1016/j.cancergen.2021.06.005. PMID: 34225100
Full trisomy 5 in a sample of spontaneous abortion and Arias Stella reaction.
Čulić V, Lozic B, Kuzmić-Prusac I, Mijaljica G, Pavelić J
Med Sci Monit 2011 Oct;17(10):CS116-9. doi: 10.12659/msm.881969. PMID: 21959617Free PMC Article
Is trisomy 5 a distinct cytogenetic subgroup in acute lymphoblastic leukemia?
Harris RL, Harrison CJ, Martineau M, Taylor KE, Moorman AV
Cancer Genet Cytogenet 2004 Jan 15;148(2):159-62. doi: 10.1016/s0165-4608(03)00272-3. PMID: 14734231
Chromosomal analyses of 52 cases of follicular lymphoma with t(14;18), including blastic/blastoid variant.
Mohamed AN, Palutke M, Eisenberg L, Al-Katib A
Cancer Genet Cytogenet 2001 Apr 1;126(1):45-51. doi: 10.1016/s0165-4608(00)00383-6. PMID: 11343778
Trisomy 5 in two cases of acute monocytic leukemia with hyperdiploid clones.
Ma SK, Wan TS, Au WY, Chan LC
Leuk Res 1998 Oct;22(10):961-4. doi: 10.1016/s0145-2126(98)00095-2. PMID: 9766757

Clinical prediction guides

A pediatric BAL case with double Ph chromosomes and trisomy 5.
Gunden G, Isik S, Ozdemir C, Cİlİngİr O, Bor O, Gokalp EE, Kocagil S, Artan S, Aras BD
Cancer Genet 2021 Nov;258-259:7-9. Epub 2021 Jun 22 doi: 10.1016/j.cancergen.2021.06.005. PMID: 34225100
Chromosome-wide aneuploidy study (CWAS) in workers exposed to an established leukemogen, benzene.
Zhang L, Lan Q, Guo W, Hubbard AE, Li G, Rappaport SM, McHale CM, Shen M, Ji Z, Vermeulen R, Yin S, Rothman N, Smith MT
Carcinogenesis 2011 Apr;32(4):605-12. Epub 2011 Jan 7 doi: 10.1093/carcin/bgq286. PMID: 21216845Free PMC Article
Hyperdiploidy defines a distinct cytogenetic entity of meningiomas.
Ketter R, Kim YJ, Storck S, Rahnenführer J, Romeike BF, Steudel WI, Zang KD, Henn W
J Neurooncol 2007 Jun;83(2):213-21. Epub 2007 Jan 17 doi: 10.1007/s11060-006-9318-7. PMID: 17225936
Chromosomal analyses of 52 cases of follicular lymphoma with t(14;18), including blastic/blastoid variant.
Mohamed AN, Palutke M, Eisenberg L, Al-Katib A
Cancer Genet Cytogenet 2001 Apr 1;126(1):45-51. doi: 10.1016/s0165-4608(00)00383-6. PMID: 11343778
Chromosomal abnormalities in non-neoplastic renal tissue.
van den Berg E, Dijkhuizen T, Störkel S, Molenaar WM, de Jong B
Cancer Genet Cytogenet 1995 Dec;85(2):152-4. doi: 10.1016/0165-4608(95)00035-6. PMID: 8548740

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