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Partial duplication of chromosome 10

MedGen UID:
1384114
•Concept ID:
C4518498
•
Cell or Molecular Dysfunction
Synonyms: Duplication of chromosome 10; partial duplication of chromosome 10; Partial trisomy of chromosome 10; partial trisomy of chromosome 10
SNOMED CT: Duplication of chromosome 10 (726349006); Partial trisomy of chromosome 10 (726349006)
 
Monarch Initiative: MONDO:0016931
Orphanet: ORPHA262648

Professional guidelines

PubMed

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
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
Diagnosis and clinical management of duplications and deletions.
Capalbo A, Rienzi L, Ubaldi FM
Fertil Steril 2017 Jan;107(1):12-18. doi: 10.1016/j.fertnstert.2016.11.002. PMID: 28040093

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
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
Diagnosis and clinical management of duplications and deletions.
Capalbo A, Rienzi L, Ubaldi FM
Fertil Steril 2017 Jan;107(1):12-18. doi: 10.1016/j.fertnstert.2016.11.002. PMID: 28040093
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

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
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D
Brain 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. PMID: 36226386Free 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
Diagnosis and clinical management of duplications and deletions.
Capalbo A, Rienzi L, Ubaldi FM
Fertil Steril 2017 Jan;107(1):12-18. doi: 10.1016/j.fertnstert.2016.11.002. PMID: 28040093
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

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
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
De novo unbalanced translocations have a complex history/aetiology.
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O
Hum Genet 2018 Oct;137(10):817-829. Epub 2018 Oct 1 doi: 10.1007/s00439-018-1941-9. PMID: 30276538
Diagnosis and clinical management of duplications and deletions.
Capalbo A, Rienzi L, Ubaldi FM
Fertil Steril 2017 Jan;107(1):12-18. doi: 10.1016/j.fertnstert.2016.11.002. PMID: 28040093
Disordered epigenetic regulation in MLL-related leukemia.
Zhang Y, Chen A, Yan XM, Huang G
Int J Hematol 2012 Oct;96(4):428-37. Epub 2012 Sep 29 doi: 10.1007/s12185-012-1180-0. PMID: 23054645

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
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
Diagnosis and clinical management of duplications and deletions.
Capalbo A, Rienzi L, Ubaldi FM
Fertil Steril 2017 Jan;107(1):12-18. doi: 10.1016/j.fertnstert.2016.11.002. PMID: 28040093
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Disordered epigenetic regulation in MLL-related leukemia.
Zhang Y, Chen A, Yan XM, Huang G
Int J Hematol 2012 Oct;96(4):428-37. Epub 2012 Sep 29 doi: 10.1007/s12185-012-1180-0. PMID: 23054645

Clinical prediction guides

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
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D
Brain 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. PMID: 36226386Free 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
Diagnosis and clinical management of duplications and deletions.
Capalbo A, Rienzi L, Ubaldi FM
Fertil Steril 2017 Jan;107(1):12-18. doi: 10.1016/j.fertnstert.2016.11.002. PMID: 28040093
Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.
Dantas VG, Freitas EL, Della-Rosa VA, Lezirovitz K, de Moraes AM, Ramos SB, Oiticica J, Alves LU, Pearson PL, Rosenberg C, Mingroni-Netto RC
Int J Audiol 2015;54(9):593-8. Epub 2015 Apr 30 doi: 10.3109/14992027.2015.1030511. PMID: 25926005

Recent systematic reviews

A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.
Lustosa-Mendes E, Dos Santos AP, Viguetti-Campos NL, Vieira TP, Gil-da-Silva-Lopes VL
Am J Med Genet A 2017 Jan;173(1):143-150. Epub 2016 Sep 15 doi: 10.1002/ajmg.a.37976. PMID: 27633903

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