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Chromosomal Deletion

MedGen UID:
3073
Concept ID:
C0008628
Cell or Molecular Dysfunction
Synonyms: Chromosome Deletion; Deletion, Chromosome; Deletions, Chromosome

Definition

Loss of a portion of a chromosome arm. [from NCI]

Professional guidelines

PubMed

Jain MD, Ziccheddu B, Coughlin CA, Faramand R, Griswold AJ, Reid KM, Menges M, Zhang Y, Cen L, Wang X, Hussaini M, Landgren O, Davila ML, Schatz JH, Locke FL, Maura F
Blood 2022 Aug 4;140(5):491-503. doi: 10.1182/blood.2021015008. PMID: 35476848Free PMC Article
Nistri S, De Cario R, Sticchi E, Spaziani G, Della Monica M, Giglio S, Favilli S, Giusti B, Stefano P, Pepe G
Genes (Basel) 2021 Sep 22;12(10) doi: 10.3390/genes12101462. PMID: 34680857Free PMC Article
Harada A, Miyashita S, Nagai R, Makino S, Murotsuki J
Congenit Anom (Kyoto) 2019 Jul;59(4):132-141. Epub 2018 Sep 5 doi: 10.1111/cga.12308. PMID: 30132994

Recent clinical studies

Etiology

Ito S, Chapman KA, Kisling M, John AS
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):149-153. Epub 2020 Feb 13 doi: 10.1002/ajmg.c.31777. PMID: 32052945
Muhle RA, Reed HE, Stratigos KA, Veenstra-VanderWeele J
JAMA Psychiatry 2018 May 1;75(5):514-523. doi: 10.1001/jamapsychiatry.2017.4685. PMID: 29590280
Appiah-Kubi K, Lan T, Wang Y, Qian H, Wu M, Yao X, Wu Y, Chen Y
Crit Rev Oncol Hematol 2017 Jan;109:20-34. Epub 2016 Nov 21 doi: 10.1016/j.critrevonc.2016.11.008. PMID: 28010895
Buiting K, Williams C, Horsthemke B
Nat Rev Neurol 2016 Oct;12(10):584-93. Epub 2016 Sep 12 doi: 10.1038/nrneurol.2016.133. PMID: 27615419
Roufosse FE, Goldman M, Cogan E
Orphanet J Rare Dis 2007 Sep 11;2:37. doi: 10.1186/1750-1172-2-37. PMID: 17848188Free PMC Article

Diagnosis

Muhle RA, Reed HE, Stratigos KA, Veenstra-VanderWeele J
JAMA Psychiatry 2018 May 1;75(5):514-523. doi: 10.1001/jamapsychiatry.2017.4685. PMID: 29590280
Appiah-Kubi K, Lan T, Wang Y, Qian H, Wu M, Yao X, Wu Y, Chen Y
Crit Rev Oncol Hematol 2017 Jan;109:20-34. Epub 2016 Nov 21 doi: 10.1016/j.critrevonc.2016.11.008. PMID: 28010895
Buiting K, Williams C, Horsthemke B
Nat Rev Neurol 2016 Oct;12(10):584-93. Epub 2016 Sep 12 doi: 10.1038/nrneurol.2016.133. PMID: 27615419
Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-Figallo MA, Hernández-Guisado JM, Machuca-Portillo G
Med Oral Patol Oral Cir Bucal 2010 May 1;15(3):e473-8. doi: 10.4317/medoral.15.e473. PMID: 20038906
Roufosse FE, Goldman M, Cogan E
Orphanet J Rare Dis 2007 Sep 11;2:37. doi: 10.1186/1750-1172-2-37. PMID: 17848188Free PMC Article

Therapy

Martín I, Villamón E, Abellán R, Calasanz MJ, Irigoyen A, Sanz G, Such E, Mora E, Gutiérrez M, Collado R, García-Serra R, Vara M, Blanco ML, Oiartzabal I, Álvarez S, Bernal T, Granada I, Xicoy B, Jerez A, Calabuig M, Diez R, Gil Á, Díez-Campelo M, Solano C, Tormo M; Spanish Group of Myelodysplastic Syndromes (GESMD)
Br J Haematol 2021 Aug;194(4):708-717. Epub 2021 Jul 22 doi: 10.1111/bjh.17675. PMID: 34296432
Wang Y, Cao L, Liang D, Meng L, Wu Y, Qiao F, Ji X, Luo C, Zhang J, Xu T, Yu B, Wang L, Wang T, Pan Q, Ma D, Hu P, Xu Z
Am J Obstet Gynecol 2018 Feb;218(2):244.e1-244.e17. Epub 2017 Nov 8 doi: 10.1016/j.ajog.2017.10.225. PMID: 29128521
Neragi-Miandoab S, Sugarbaker DJ
Interact Cardiovasc Thorac Surg 2009 Jul;9(1):42-4. Epub 2009 Apr 3 doi: 10.1510/icvts.2008.201509. PMID: 19346221
Abraham R, Pagano F, Gomella LG, Baffa R
Front Biosci 2007 Jan 1;12:826-38. doi: 10.2741/2105. PMID: 17127340
Coutré S, Gotlib J
Semin Cancer Biol 2004 Aug;14(4):307-15. doi: 10.1016/j.semcancer.2004.03.002. PMID: 15305431

Prognosis

Jain MD, Ziccheddu B, Coughlin CA, Faramand R, Griswold AJ, Reid KM, Menges M, Zhang Y, Cen L, Wang X, Hussaini M, Landgren O, Davila ML, Schatz JH, Locke FL, Maura F
Blood 2022 Aug 4;140(5):491-503. doi: 10.1182/blood.2021015008. PMID: 35476848Free PMC Article
Schödel J, Grampp S, Maher ER, Moch H, Ratcliffe PJ, Russo P, Mole DR
Eur Urol 2016 Apr;69(4):646-657. Epub 2015 Aug 19 doi: 10.1016/j.eururo.2015.08.007. PMID: 26298207Free PMC Article
Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-Figallo MA, Hernández-Guisado JM, Machuca-Portillo G
Med Oral Patol Oral Cir Bucal 2010 May 1;15(3):e473-8. doi: 10.4317/medoral.15.e473. PMID: 20038906
Roufosse FE, Goldman M, Cogan E
Orphanet J Rare Dis 2007 Sep 11;2:37. doi: 10.1186/1750-1172-2-37. PMID: 17848188Free PMC Article
Stahl A, Levy N, Wadzynska T, Sussan JM, Jourdan-Fonta D, Saracco JB
Ann Genet 1994;37(4):172-8. PMID: 7710251

Clinical prediction guides

Jain MD, Ziccheddu B, Coughlin CA, Faramand R, Griswold AJ, Reid KM, Menges M, Zhang Y, Cen L, Wang X, Hussaini M, Landgren O, Davila ML, Schatz JH, Locke FL, Maura F
Blood 2022 Aug 4;140(5):491-503. doi: 10.1182/blood.2021015008. PMID: 35476848Free PMC Article
Graillon T, Tabouret E, Chinot O
Curr Opin Neurol 2021 Dec 1;34(6):857-867. doi: 10.1097/WCO.0000000000001002. PMID: 34629433
Muhle RA, Reed HE, Stratigos KA, Veenstra-VanderWeele J
JAMA Psychiatry 2018 May 1;75(5):514-523. doi: 10.1001/jamapsychiatry.2017.4685. PMID: 29590280
Siegal T
Adv Tech Stand Neurosurg 2016;(43):91-108. doi: 10.1007/978-3-319-21359-0_4. PMID: 26508407
Roufosse FE, Goldman M, Cogan E
Orphanet J Rare Dis 2007 Sep 11;2:37. doi: 10.1186/1750-1172-2-37. PMID: 17848188Free PMC Article

Recent systematic reviews

Kivelä T, Tuppurainen K, Riikonen P, Vapalahti M
Ophthalmology 2003 Oct;110(10):1983-8. doi: 10.1016/S0161-6420(03)00484-6. PMID: 14522775

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