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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

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
Chen Y, Lai Y, Xu F, Qin H, Tang Y, Huang X, Meng L, Su J, Sun W, Shen Y, Wei H
J Matern Fetal Neonatal Med 2021 Aug;34(16):2710-2716. Epub 2021 May 2 doi: 10.1080/14767058.2021.1907333. PMID: 33938369
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

Zhang W, Li Q, Yin R
Drug Des Devel Ther 2024;18:2449-2460. Epub 2024 Jun 20 doi: 10.2147/DDDT.S462056. PMID: 38915863Free PMC Article
Turco EM, Giovenale AMG, Sireno L, Mazzoni M, Cammareri A, Marchioretti C, Goracci L, Di Veroli A, Marchesan E, D'Andrea D, Falconieri A, Torres B, Bernardini L, Magnifico MC, Paone A, Rinaldo S, Della Monica M, D'Arrigo S, Postorivo D, Nardone AM, Zampino G, Onesimo R, Leoni C, Caicci F, Raimondo D, Binda E, Trobiani L, De Jaco A, Tata AM, Ferrari D, Cutruzzolà F, Mazzoccoli G, Ziviani E, Pennuto M, Vescovi AL, Rosati J
Cell Death Dis 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7. PMID: 36411275Free PMC Article
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

Li Y, Zhu F, Manna AC, Chen L, Jiang J, Hong JI, Proctor RA, Bayer AS, Cheung AL, Xiong YQ
Microbiol Spectr 2023 Aug 17;11(4):e0060023. Epub 2023 Jun 26 doi: 10.1128/spectrum.00600-23. PMID: 37358448Free PMC Article
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
Srinivasan S, Schiffer CA
Expert Opin Pharmacother 2008 Jul;9(10):1667-78. doi: 10.1517/14656566.9.10.1667. PMID: 18570600
Coutré S, Gotlib J
Semin Cancer Biol 2004 Feb;14(1):23-31. doi: 10.1016/j.semcancer.2003.11.004. PMID: 14757533

Prognosis

Siegal T
Adv Tech Stand Neurosurg 2016;(43):91-108. doi: 10.1007/978-3-319-21359-0_4. PMID: 26508407
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
Siegal T
J Clin Neurosci 2015 Mar;22(3):437-44. Epub 2014 Dec 18 doi: 10.1016/j.jocn.2014.10.004. PMID: 25533211
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

Clinical prediction guides

Huth T, Dreher EC, Lemke S, Fritzsche S, Sugiyanto RN, Castven D, Ibberson D, Sticht C, Eiteneuer E, Jauch A, Pusch S, Albrecht T, Goeppert B, Candia J, Wang XW, Ji J, Marquardt JU, Nahnsen S, Schirmacher P, Roessler S
Sci Adv 2023 Dec 22;9(51):eadh1442. doi: 10.1126/sciadv.adh1442. PMID: 38134284Free 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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