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6q21-6q22.1 deletion

MedGen UID:
851790
Concept ID:
CN233148
Disease or Syndrome

Professional guidelines

PubMed

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Hallek M
Am J Hematol 2019 Nov;94(11):1266-1287. Epub 2019 Oct 4 doi: 10.1002/ajh.25595. PMID: 31364186
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Rees E, Kirov G
Curr Opin Genet Dev 2021 Jun;68:57-63. Epub 2021 Mar 19 doi: 10.1016/j.gde.2021.02.014. PMID: 33752146Free PMC Article
Bacchelli E, Cameli C, Viggiano M, Igliozzi R, Mancini A, Tancredi R, Battaglia A, Maestrini E
Sci Rep 2020 Feb 21;10(1):3198. doi: 10.1038/s41598-020-59922-3. PMID: 32081867Free PMC Article
Witmer C, Mattingly A, DʼSouza P, Thurm A, Hadigan C
J Pediatr Gastroenterol Nutr 2019 Aug;69(2):e39-e42. doi: 10.1097/MPG.0000000000002342. PMID: 30921255Free PMC Article
Nakamura N
Int J Radiat Biol 2019 Jul;95(7):999-1014. Epub 2019 Feb 20 doi: 10.1080/09553002.2019.1572251. PMID: 30676167
Uchino S, Waga C
Brain Dev 2013 Feb;35(2):106-10. Epub 2012 Jun 29 doi: 10.1016/j.braindev.2012.05.013. PMID: 22749736

Diagnosis

Pereira E, Marion R
Pediatr Rev 2018 Jan;39(1):46-49. doi: 10.1542/pir.2016-0073. PMID: 29292292
Statland J, Tawil R
Neurol Clin 2014 Aug;32(3):721-8, ix. Epub 2014 May 15 doi: 10.1016/j.ncl.2014.04.003. PMID: 25037087Free PMC Article
Weise A, Mrasek K, Klein E, Mulatinho M, Llerena JC Jr, Hardekopf D, Pekova S, Bhatt S, Kosyakova N, Liehr T
J Histochem Cytochem 2012 May;60(5):346-58. Epub 2012 Mar 6 doi: 10.1369/0022155412440001. PMID: 22396478Free PMC Article
McFarland R, Turnbull DM
J Intern Med 2009 Feb;265(2):210-28. doi: 10.1111/j.1365-2796.2008.02066.x. PMID: 19192037
Donnai D
J Inherit Metab Dis 1994;17(4):442-7. doi: 10.1007/BF00711359. PMID: 7967494

Therapy

Chen W, Zhao D, He X, Liu R, Wang Z, Zhang X, Li F, Shan D, Chen H, Zhang J, Wang L, Wen Z, Wang X, Guan Y, Liu J, Bu Z
Sci China Life Sci 2020 May;63(5):623-634. Epub 2020 Mar 1 doi: 10.1007/s11427-020-1657-9. PMID: 32124180Free PMC Article
Zhang Y, Li M, Xiao F, Teng R, Zhang C, Lan A, Gu K, Li J, Wang D, Li H, Jiang L, Zeng S, He M, Huang Y, Guo P, Zhang X, Yang X
Gene 2015 Oct 15;571(1):9-16. Epub 2015 Jul 30 doi: 10.1016/j.gene.2015.07.083. PMID: 26232607
Rådmark O, Samuelsson B
J Intern Med 2010 Jul;268(1):5-14. Epub 2010 Apr 28 doi: 10.1111/j.1365-2796.2010.02246.x. PMID: 20497297
Voldborg BR, Damstrup L, Spang-Thomsen M, Poulsen HS
Ann Oncol 1997 Dec;8(12):1197-206. doi: 10.1023/a:1008209720526. PMID: 9496384
Rosenbloom AL, Rosenfeld RG, Guevara-Aguirre J
Pediatr Clin North Am 1997 Apr;44(2):423-42. doi: 10.1016/s0031-3955(05)70484-3. PMID: 9130928

Prognosis

Ling X, Han Y, Meng J, Zhong B, Chen J, Zhang H, Qin J, Pang J, Liu L
Mol Cancer 2021 Sep 3;20(1):113. doi: 10.1186/s12943-021-01413-8. PMID: 34479546Free PMC Article
King ZA, Lloyd CJ, Feist AM, Palsson BO
Curr Opin Biotechnol 2015 Dec;35:23-9. Epub 2015 Jan 7 doi: 10.1016/j.copbio.2014.12.016. PMID: 25575024
Thein SL
Baillieres Clin Haematol 1998 Mar;11(1):91-126. doi: 10.1016/s0950-3536(98)80071-1. PMID: 10872474
Liggett WH Jr, Sidransky D
J Clin Oncol 1998 Mar;16(3):1197-206. doi: 10.1200/JCO.1998.16.3.1197. PMID: 9508208
Harriman W, Völk H, Defranoux N, Wabl M
Annu Rev Immunol 1993;11:361-84. doi: 10.1146/annurev.iy.11.040193.002045. PMID: 8476566

Clinical prediction guides

Kehrer-Sawatzki H, Wahlländer U, Cooper DN, Mautner VF
Genes (Basel) 2021 Oct 19;12(10) doi: 10.3390/genes12101639. PMID: 34681033Free PMC Article
Chacón-Camacho ÓF, Cabral-Macías J, Ayala-Ramírez R, Arteaga-Vázquez J, Svyryd Y, Helmes K, Pérez-Hernández N, Mutchinick OM, Zenteno JC
Rev Invest Clin 2016 Sep-Oct;68(5):269-274. PMID: 27941963
King ZA, Lloyd CJ, Feist AM, Palsson BO
Curr Opin Biotechnol 2015 Dec;35:23-9. Epub 2015 Jan 7 doi: 10.1016/j.copbio.2014.12.016. PMID: 25575024
Golzio C, Katsanis N
Curr Opin Genet Dev 2013 Jun;23(3):240-8. Epub 2013 Jun 5 doi: 10.1016/j.gde.2013.04.013. PMID: 23747035Free PMC Article
Liggett WH Jr, Sidransky D
J Clin Oncol 1998 Mar;16(3):1197-206. doi: 10.1200/JCO.1998.16.3.1197. PMID: 9508208

Recent systematic reviews

Kirkham JK, Estepp JH, Weiss MJ, Rashkin SR
JAMA Netw Open 2023 Oct 2;6(10):e2337484. doi: 10.1001/jamanetworkopen.2023.37484. PMID: 37851445Free PMC Article
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396
Vered M, Wright JM
Head Neck Pathol 2022 Mar;16(1):63-75. Epub 2022 Mar 21 doi: 10.1007/s12105-021-01404-7. PMID: 35312978Free PMC Article
Yadav V, Ganesan P, Veeramani R, Kumar V D
Clin Lymphoma Myeloma Leuk 2021 Jan;21(1):e57-e65. Epub 2020 Aug 18 doi: 10.1016/j.clml.2020.08.011. PMID: 33485429
Zhao Y, Liu J, Cai X, Pan Z, Liu J, Yin W, Chen H, Xie Z, Liang H, Wang W, Guo Z, Zhao S, Liang W, He J
BMJ 2019 Oct 7;367:l5460. doi: 10.1136/bmj.l5460. PMID: 31591158Free PMC Article

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    Clinical resources

    Practice guidelines

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