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Partial duplication of chromosome 3

MedGen UID:
1372547
•Concept ID:
C4518491
•
Cell or Molecular Dysfunction
Synonyms: Duplication of chromosome 3; partial duplication of chromosome 3; partial duplication of chromosome type 3; Partial trisomy of chromosome 3; partial trisomy of chromosome 3
SNOMED CT: Partial trisomy of chromosome 3 (726341009); Duplication of chromosome 3 (726341009)
 
Monarch Initiative: MONDO:0016923
Orphanet: ORPHA262201

Professional guidelines

PubMed

Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.
Alsubhi S, Berrahmoune S, Dudley RWR, Dufresne D, Simard Tremblay E, Srour M, Myers KA
J Neurol 2024 May;271(5):2503-2508. Epub 2024 Jan 23 doi: 10.1007/s00415-023-12174-3. PMID: 38261030
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

Recent clinical studies

Etiology

Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.
Alsubhi S, Berrahmoune S, Dudley RWR, Dufresne D, Simard Tremblay E, Srour M, Myers KA
J Neurol 2024 May;271(5):2503-2508. Epub 2024 Jan 23 doi: 10.1007/s00415-023-12174-3. PMID: 38261030
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
Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign.
Yue F, Yu Y, Zhang X, Jiang Y, Li L, Liu R, Zhang H
Medicine (Baltimore) 2021 Jan 22;100(3):e23967. doi: 10.1097/MD.0000000000023967. PMID: 33545980Free PMC Article
Duplications in 19p13.3 are associated with male infertility.
Singh V, Bala R, Chakraborty A, Rajender S, Trivedi S, Singh K
J Assist Reprod Genet 2019 Oct;36(10):2171-2179. Epub 2019 Aug 16 doi: 10.1007/s10815-019-01547-1. PMID: 31418107Free PMC Article
Histological comparison of partial hydatidiform mole and trisomy gestation specimens.
Wilson Y, Bharat C, Crook ML, Kee AR, Peverall J, Ruba S, Stewart CJ
Pathology 2016 Oct;48(6):550-4. Epub 2016 Aug 26 doi: 10.1016/j.pathol.2016.06.006. PMID: 27575970

Diagnosis

Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.
Alsubhi S, Berrahmoune S, Dudley RWR, Dufresne D, Simard Tremblay E, Srour M, Myers KA
J Neurol 2024 May;271(5):2503-2508. Epub 2024 Jan 23 doi: 10.1007/s00415-023-12174-3. PMID: 38261030
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
The molecular pathogenesis of the myelodysplastic syndromes.
Pellagatti A, Boultwood J
Eur J Haematol 2015 Jul;95(1):3-15. Epub 2015 Feb 20 doi: 10.1111/ejh.12515. PMID: 25645650
Partial trisomy 18q.
Elbistan M, Kucukoduk S, Kara N
Indian J Pediatr 1996 May-Jun;63(3):393-6. doi: 10.1007/BF02751537. PMID: 10830017

Therapy

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
Keratoconus in a child with partial trisomy 13.
Ernst J, Eldib A, Scanga HL, Nischal KK
Ophthalmic Genet 2021 Jun;42(3):360-363. Epub 2021 Apr 16 doi: 10.1080/13816810.2021.1897849. PMID: 33858272
Oxaliplatin-related acute myelogenous leukemia.
Carneiro BA, Kaminer L, Eldibany M, Sreekantaiah C, Kaul K, Locker GY
Oncologist 2006 Mar;11(3):261-2. doi: 10.1634/theoncologist.11-3-261. PMID: 16549810
Prenatal etiologies of West syndrome.
Ohtahara S, Ohtsuka Y, Yamatogi Y, Oka E, Yoshinaga H, Sato M
Epilepsia 1993 Jul-Aug;34(4):716-22. doi: 10.1111/j.1528-1157.1993.tb00451.x. PMID: 8330583

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
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
Dosage sensitivity and exon shuffling shape the landscape of polymorphic duplicates in Drosophila and humans.
Zhang D, Leng L, Chen C, Huang J, Zhang Y, Yuan H, Ma C, Chen H, Zhang YE
Nat Ecol Evol 2022 Mar;6(3):273-287. Epub 2021 Dec 30 doi: 10.1038/s41559-021-01614-w. PMID: 34969986
The molecular pathogenesis of the myelodysplastic syndromes.
Pellagatti A, Boultwood J
Eur J Haematol 2015 Jul;95(1):3-15. Epub 2015 Feb 20 doi: 10.1111/ejh.12515. PMID: 25645650
Partial trisomy 18q.
Elbistan M, Kucukoduk S, Kara N
Indian J Pediatr 1996 May-Jun;63(3):393-6. doi: 10.1007/BF02751537. PMID: 10830017

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
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
Dosage sensitivity and exon shuffling shape the landscape of polymorphic duplicates in Drosophila and humans.
Zhang D, Leng L, Chen C, Huang J, Zhang Y, Yuan H, Ma C, Chen H, Zhang YE
Nat Ecol Evol 2022 Mar;6(3):273-287. Epub 2021 Dec 30 doi: 10.1038/s41559-021-01614-w. PMID: 34969986
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

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