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Partial duplication of chromosome 12

MedGen UID:
1053574
•Concept ID:
CN377725
•
Disease or Syndrome
Synonym: partial duplication of chromosome 12
 
Monarch Initiative: MONDO:0042968

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
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
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
Inv21p12q22del21q22 and intellectual disability.
Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP
Gene 2013 Mar 15;517(1):120-4. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.045. PMID: 23266646
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
Tertiary trisomy (22q11q),47,+der(22),t(11;22).
Biederman BM, Lin CC, Lowry RB, Somerville R
Hum Genet 1980 Feb;53(2):173-7. doi: 10.1007/BF00273491. PMID: 7358384

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
Modulation of Global Gene Expression by Aneuploidy and CNV of Dosage Sensitive Regulatory Genes.
Zhang S, Wang R, Huang C, Zhang L, Sun L
Genes (Basel) 2021 Oct 12;12(10) doi: 10.3390/genes12101606. PMID: 34681000Free PMC Article
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

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
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
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
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
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
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
Inv21p12q22del21q22 and intellectual disability.
Oliveira R, Dória S, Madureira C, Lima V, Almeida C, Pinho MJ, Ramalho C, Matoso E, Barros A, Carreira IM, Moura CP
Gene 2013 Mar 15;517(1):120-4. Epub 2012 Dec 20 doi: 10.1016/j.gene.2012.12.045. PMID: 23266646
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

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
Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.
Murray A, Gough G, Cindrić A, Vučković F, Koschut D, Borelli V, Petrović DJ, Bekavac A, Plećaš A, Hribljan V, Brunmeir R, Jurić J, Pučić-Baković M, Slana A, Deriš H, Frkatović A, Groet J, O'Brien NL, Chen HY, Yeap YJ, Delom F, Havlicek S, Gammon L, Hamburg S, Startin C, D'Souza H, Mitrečić D, Kero M, Odak L, Krušlin B, Krsnik Ž, Kostović I, Foo JN, Loh YH, Dunn NR, de la Luna S, Spector T, Barišić I, Thomas MSC, Strydom A, Franceschi C, Lauc G, Krištić J, Alić I, Nižetić D
EBioMedicine 2023 Aug;94:104692. Epub 2023 Jul 12 doi: 10.1016/j.ebiom.2023.104692. PMID: 37451904Free PMC Article
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
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

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