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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

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
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
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

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
Charlesworth D, Bergero R, Graham C, Gardner J, Yong L
G3 (Bethesda) 2020 Oct 5;10(10):3639-3649. doi: 10.1534/g3.120.401573. PMID: 32753367Free PMC Article
Capalbo A, Rienzi L, Ubaldi FM
Fertil Steril 2017 Jan;107(1):12-18. doi: 10.1016/j.fertnstert.2016.11.002. PMID: 28040093
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
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

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

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

Prognosis

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
Capalbo A, Rienzi L, Ubaldi FM
Fertil Steril 2017 Jan;107(1):12-18. doi: 10.1016/j.fertnstert.2016.11.002. PMID: 28040093
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
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Dierlamm J, Michaux L, Criel A, Wlodarska I, Van den Berghe H, Hossfeld DK
Cancer Genet Cytogenet 1997 Mar;94(1):27-35. doi: 10.1016/s0165-4608(96)00246-4. PMID: 9078288

Clinical prediction guides

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
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
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
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
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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