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Partial duplication of chromosome 2

MedGen UID:
1372476
•Concept ID:
C4518490
•
Cell or Molecular Dysfunction
Synonyms: Duplication of chromosome 2; partial duplication of chromosome 2; partial duplication of chromosome type 2; Partial trisomy of chromosome 2; partial trisomy of chromosome 2
SNOMED CT: Partial trisomy of chromosome 2 (726340005); Duplication of chromosome 2 (726340005)
 
Monarch Initiative: MONDO:0016922
Orphanet: ORPHA262196

Professional guidelines

PubMed

Natural history, predictors of development of extramedullary disease, and treatment outcomes for patients with extramedullary multiple myeloma.
Zanwar S, Ho M, Lin Y, Kapoor P, Binder M, Buadi FK, Dispenzieri A, Dingli D, Fonder A, Gertz MA, Gonsalves W, Hayman SR, Hwa Y, Hobbs M, Kourelis T, Lacy MQ, Leung N, Muchtar E, Warsame R, Jevremovic D, Kyle RA, Rajkumar SV, Kumar S
Am J Hematol 2023 Oct;98(10):1540-1549. Epub 2023 Jul 8 doi: 10.1002/ajh.27023. PMID: 37421603
A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditions.
Xie P, Hu X, Kong L, Mao Y, Cheng D, Kang K, Dai J, Zhao D, Zhang Y, Lu N, Wan Z, Du R, Xiong B, Zhang J, Tan Y, Lu G, Gong F, Lin G, Liang B, Du J, Hu L
Hum Reprod 2022 Oct 31;37(11):2546-2559. doi: 10.1093/humrep/deac190. PMID: 36066440
Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.
Bregand-White J, Saller DN, Clemens M, Surti U, Yatsenko SA, Rajkovic A
Am J Med Genet A 2016 Sep;170(9):2365-71. Epub 2016 Jun 10 doi: 10.1002/ajmg.a.37793. PMID: 27286879

Recent clinical studies

Etiology

Natural history, predictors of development of extramedullary disease, and treatment outcomes for patients with extramedullary multiple myeloma.
Zanwar S, Ho M, Lin Y, Kapoor P, Binder M, Buadi FK, Dispenzieri A, Dingli D, Fonder A, Gertz MA, Gonsalves W, Hayman SR, Hwa Y, Hobbs M, Kourelis T, Lacy MQ, Leung N, Muchtar E, Warsame R, Jevremovic D, Kyle RA, Rajkumar SV, Kumar S
Am J Hematol 2023 Oct;98(10):1540-1549. Epub 2023 Jul 8 doi: 10.1002/ajh.27023. PMID: 37421603
RUNX1 isoform disequilibrium promotes the development of trisomy 21-associated myeloid leukemia.
Gialesaki S, Bräuer-Hartmann D, Issa H, Bhayadia R, Alejo-Valle O, Verboon L, Schmell AL, Laszig S, Regényi E, Schuschel K, Labuhn M, Ng M, Winkler R, Ihling C, Sinz A, Glaß M, Hüttelmaier S, Matzk S, Schmid L, Strüwe FJ, Kadel SK, Reinhardt D, Yaspo ML, Heckl D, Klusmann JH
Blood 2023 Mar 9;141(10):1105-1118. doi: 10.1182/blood.2022017619. PMID: 36493345Free PMC Article
Epigenetics in Turner syndrome.
Álvarez-Nava F, Lanes R
Clin Epigenetics 2018;10:45. Epub 2018 Apr 6 doi: 10.1186/s13148-018-0477-0. PMID: 29636833Free PMC Article
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Towards the understanding of Down syndrome using mouse models.
Yamakawa K
Congenit Anom (Kyoto) 2012 Jun;52(2):67-71. doi: 10.1111/j.1741-4520.2012.00367.x. PMID: 22639990

Diagnosis

Natural history, predictors of development of extramedullary disease, and treatment outcomes for patients with extramedullary multiple myeloma.
Zanwar S, Ho M, Lin Y, Kapoor P, Binder M, Buadi FK, Dispenzieri A, Dingli D, Fonder A, Gertz MA, Gonsalves W, Hayman SR, Hwa Y, Hobbs M, Kourelis T, Lacy MQ, Leung N, Muchtar E, Warsame R, Jevremovic D, Kyle RA, Rajkumar SV, Kumar S
Am J Hematol 2023 Oct;98(10):1540-1549. Epub 2023 Jul 8 doi: 10.1002/ajh.27023. PMID: 37421603
Abnormal Y chromosome detection in infertile males using multiplex ligation-dependent probe amplification.
Dai X, Shi F, Cheung CKY, Li J, Lin S
Andrologia 2022 Mar;54(2):e14316. Epub 2021 Nov 18 doi: 10.1111/and.14316. PMID: 34791684
Prenatal diagnosis of the Dandy-Walker malformation associated with partial trisomy 12p and distal 15q deletion.
Sun Y, Zhang N, Tian H, Zhang P, Li Y
J Genet 2021;100 PMID: 34238780
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.
Bregand-White J, Saller DN, Clemens M, Surti U, Yatsenko SA, Rajkovic A
Am J Med Genet A 2016 Sep;170(9):2365-71. Epub 2016 Jun 10 doi: 10.1002/ajmg.a.37793. PMID: 27286879

Therapy

Optical genome mapping improves the accuracy of classification, risk stratification, and personalized treatment strategies for patients with acute myeloid leukemia.
Loghavi S, Wei Q, Ravandi F, Quesada AE, Routbort MJ, Hu S, Toruner GA, Wang SA, Wang W, Miranda RN, Li S, Xu J, DiNardo CD, Daver N, Kadia TM, Issa GC, Kantarjian HM, Medeiros LJ, Tang G
Am J Hematol 2024 Oct;99(10):1959-1968. Epub 2024 Jul 17 doi: 10.1002/ajh.27435. PMID: 39016111
The use of copy number loads to designate mosaicism in blastocyst stage PGT-A cycles: fewer is better.
Girardi L, Figliuzzi M, Poli M, Serdarogullari M, Patassini C, Caroselli S, Pergher I, Cogo F, Coban O, Boynukalin FK, Bahceci M, Navarro R, Rubio C, Findikli N, Simón C, Capalbo A
Hum Reprod 2023 May 2;38(5):982-991. doi: 10.1093/humrep/dead049. PMID: 36928183
A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditions.
Xie P, Hu X, Kong L, Mao Y, Cheng D, Kang K, Dai J, Zhao D, Zhang Y, Lu N, Wan Z, Du R, Xiong B, Zhang J, Tan Y, Lu G, Gong F, Lin G, Liang B, Du J, Hu L
Hum Reprod 2022 Oct 31;37(11):2546-2559. doi: 10.1093/humrep/deac190. PMID: 36066440
Ten-year survivors in AL amyloidosis: characteristics and treatment pattern.
Muchtar E, Gertz MA, Lacy MQ, Go RS, Buadi FK, Dingli D, Grogan M, AbouEzzeddine OF, Hayman SR, Kapoor P, Leung N, Fonder A, Hobbs M, Hwa YL, Gonsalves W, Warsame R, Kourelis TV, Russell S, Lust JA, Lin Y, Zeldenrust S, Kyle RA, Rajkumar SV, Kumar SK, Dispenzieri A
Br J Haematol 2019 Dec;187(5):588-594. Epub 2019 Jul 12 doi: 10.1111/bjh.16096. PMID: 31298751Free PMC Article
Supernumerary isochromosome 1, idic(1)(p12), leading to tetrasomy 1q in Burkitt lymphoma.
Roug AS, Wendtland P, Bendix K, Kjeldsen E
Cytogenet Genome Res 2014;142(1):7-13. Epub 2013 Nov 8 doi: 10.1159/000355985. PMID: 24217199

Prognosis

Natural history, predictors of development of extramedullary disease, and treatment outcomes for patients with extramedullary multiple myeloma.
Zanwar S, Ho M, Lin Y, Kapoor P, Binder M, Buadi FK, Dispenzieri A, Dingli D, Fonder A, Gertz MA, Gonsalves W, Hayman SR, Hwa Y, Hobbs M, Kourelis T, Lacy MQ, Leung N, Muchtar E, Warsame R, Jevremovic D, Kyle RA, Rajkumar SV, Kumar S
Am J Hematol 2023 Oct;98(10):1540-1549. Epub 2023 Jul 8 doi: 10.1002/ajh.27023. PMID: 37421603
Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China.
Zhao P, Gu X, Wu H, Deng X
J Int Med Res 2019 Mar;47(3):1114-1123. Epub 2019 Jan 7 doi: 10.1177/0300060518816253. PMID: 30614339Free PMC Article
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.
Bregand-White J, Saller DN, Clemens M, Surti U, Yatsenko SA, Rajkovic A
Am J Med Genet A 2016 Sep;170(9):2365-71. Epub 2016 Jun 10 doi: 10.1002/ajmg.a.37793. PMID: 27286879
Cytogenetic manifestation of chromosome 11 duplication/amplification in acute myeloid leukemia.
Sárová I, Brezinová J, Zemanová Z, Izáková S, Lizcová L, Malinová E, Berková A, Cermák J, Maaloufová J, Nováková L, Michalová K
Cancer Genet Cytogenet 2010 Jun;199(2):121-7. doi: 10.1016/j.cancergencyto.2010.02.012. PMID: 20471515

Clinical prediction guides

Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
Fang X, Hilton B, Clarkson K, Rogers RC, Schroer R, Childers A, Patterson WG, Davis JM, Everman DB, DuPont BR
Cytogenet Genome Res 2023;163(1-2):14-23. Epub 2023 Jul 27 doi: 10.1159/000533218. PMID: 37497920
Natural history, predictors of development of extramedullary disease, and treatment outcomes for patients with extramedullary multiple myeloma.
Zanwar S, Ho M, Lin Y, Kapoor P, Binder M, Buadi FK, Dispenzieri A, Dingli D, Fonder A, Gertz MA, Gonsalves W, Hayman SR, Hwa Y, Hobbs M, Kourelis T, Lacy MQ, Leung N, Muchtar E, Warsame R, Jevremovic D, Kyle RA, Rajkumar SV, Kumar S
Am J Hematol 2023 Oct;98(10):1540-1549. Epub 2023 Jul 8 doi: 10.1002/ajh.27023. PMID: 37421603
Spermatogenic failure and the Y chromosome.
Krausz C, Casamonti E
Hum Genet 2017 May;136(5):637-655. Epub 2017 Apr 29 doi: 10.1007/s00439-017-1793-8. PMID: 28456834
Assessment of clinical application of preimplantation genetic screening on cryopreserved human blastocysts.
Liu M, Su Y, Wang WH
Reprod Biol Endocrinol 2016 Apr 8;14:16. doi: 10.1186/s12958-016-0155-z. PMID: 27059821Free PMC Article
Towards the understanding of Down syndrome using mouse models.
Yamakawa K
Congenit Anom (Kyoto) 2012 Jun;52(2):67-71. doi: 10.1111/j.1741-4520.2012.00367.x. PMID: 22639990

Recent systematic reviews

Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.
Dirvanskyte P, Gurram B, Bolton C, Warner N, Jones KDJ, Griffin HR; Genomics England Research Consortium, Park JY, Keller KM, Gilmour KC, Hambleton S, Muise AM, Wysocki C, Uhlig HH
J Crohns Colitis 2023 Jan 27;17(1):49-60. doi: 10.1093/ecco-jcc/jjac103. PMID: 35907265Free PMC Article
Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.
Bregand-White J, Saller DN, Clemens M, Surti U, Yatsenko SA, Rajkovic A
Am J Med Genet A 2016 Sep;170(9):2365-71. Epub 2016 Jun 10 doi: 10.1002/ajmg.a.37793. PMID: 27286879

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