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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

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
Paylor R, Lindsay E
Biol Psychiatry 2006 Jun 15;59(12):1172-9. Epub 2006 Apr 17 doi: 10.1016/j.biopsych.2006.01.018. PMID: 16616724

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
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
Zipfel PF, Heinen S, Skerka C
Curr Opin Nephrol Hypertens 2010 Jul;19(4):372-8. doi: 10.1097/MNH.0b013e32833aff4a. PMID: 20539230
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
Gingras MC, Sabo A, Cardenas M, Rana A, Dhingra S, Meng Q, Hu J, Muzny DM, Doddapaneni H, Perez L, Korchina V, Nessner C, Liu X, Chao H, Goss J, Gibbs RA
Life Sci Alliance 2021 Sep;4(9) Epub 2021 Jul 22 doi: 10.26508/lsa.202000941. PMID: 34301805Free PMC Article
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
Hawkes CP, Levine MA
J Clin Endocrinol Metab 2014 May;99(5):1531-6. Epub 2014 Feb 25 doi: 10.1210/jc.2013-4275. PMID: 24606099Free PMC Article
Srinivasan S, Schiffer CA
Expert Opin Pharmacother 2008 Jul;9(10):1667-78. doi: 10.1517/14656566.9.10.1667. PMID: 18570600

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

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
J Clin Neurosci 2015 Mar;22(3):437-44. Epub 2014 Dec 18 doi: 10.1016/j.jocn.2014.10.004. PMID: 25533211
Santiago MB, Lima I, Feitosa AC, Braz Ade S, Miranda LG
Semin Arthritis Rheum 2009 Jun;38(6):452-7. Epub 2008 Apr 18 doi: 10.1016/j.semarthrit.2008.01.018. PMID: 18378280
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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