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Chromosome 17 disorder

MedGen UID:
1380521
Concept ID:
C4329664
Cell or Molecular Dysfunction
Synonym: Chromosome 17 abnormality
 
Monarch Initiative: MONDO:0020583

Definition

An irregularity in the structure of chromosome 17. [from NCI]

Professional guidelines

PubMed

Hallek M
Am J Hematol 2019 Nov;94(11):1266-1287. Epub 2019 Oct 4 doi: 10.1002/ajh.25595. PMID: 31364186
Hallek M
Am J Hematol 2017 Sep;92(9):946-965. doi: 10.1002/ajh.24826. PMID: 28782884
Mesulam MM
Ann Neurol 2001 Apr;49(4):425-32. PMID: 11310619

Recent clinical studies

Etiology

Cooper YA, Teyssier N, Dräger NM, Guo Q, Davis JE, Sattler SM, Yang Z, Patel A, Wu S, Kosuri S, Coppola G, Kampmann M, Geschwind DH
Science 2022 Aug 19;377(6608):eabi8654. doi: 10.1126/science.abi8654. PMID: 35981026
Xu J, Chen LJ, Yang SS, Sun Y, Wu W, Liu YF, Xu J, Zhuang Y, Zhang W, Weng XQ, Wu J, Wang Y, Wang J, Yan H, Xu WB, Jiang H, Du J, Ding XY, Li B, Li JM, Fu WJ, Zhu J, Zhu L, Chen Z, Fan XF, Hou J, Li JY, Mi JQ, Chen SJ
Proc Natl Acad Sci U S A 2019 May 7;116(19):9543-9551. Epub 2019 Apr 15 doi: 10.1073/pnas.1819745116. PMID: 30988175Free PMC Article
Wilhelmsen KC
Cell Mol Life Sci 1998 Sep;54(9):920-4. doi: 10.1007/s000180050221. PMID: 9791534
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455
Chance PF, Pleasure D
Arch Neurol 1993 Nov;50(11):1180-4. doi: 10.1001/archneur.1993.00540110060006. PMID: 8215977

Diagnosis

Elsea SH, Girirajan S
Eur J Hum Genet 2008 Apr;16(4):412-21. Epub 2008 Jan 30 doi: 10.1038/sj.ejhg.5202009. PMID: 18231123
Robert M, Mathuranath PS
Neurol India 2007 Jan-Mar;55(1):11-6. doi: 10.4103/0028-3886.30420. PMID: 17272893
Graff-Radford NR, Woodruff BK
Semin Neurol 2007 Feb;27(1):48-57. doi: 10.1055/s-2006-956755. PMID: 17226741
Chance PF, Windebank AJ
Curr Opin Neurol 1996 Oct;9(5):343-7. doi: 10.1097/00019052-199610000-00005. PMID: 8894409
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455

Therapy

Hallek M, Al-Sawaf O
Am J Hematol 2021 Dec 1;96(12):1679-1705. doi: 10.1002/ajh.26367. PMID: 34625994
Schettini F, Prat A
Breast 2021 Oct;59:339-350. Epub 2021 Aug 5 doi: 10.1016/j.breast.2021.07.019. PMID: 34392185Free PMC Article
Hallek M
Am J Hematol 2019 Nov;94(11):1266-1287. Epub 2019 Oct 4 doi: 10.1002/ajh.25595. PMID: 31364186
Xu J, Chen LJ, Yang SS, Sun Y, Wu W, Liu YF, Xu J, Zhuang Y, Zhang W, Weng XQ, Wu J, Wang Y, Wang J, Yan H, Xu WB, Jiang H, Du J, Ding XY, Li B, Li JM, Fu WJ, Zhu J, Zhu L, Chen Z, Fan XF, Hou J, Li JY, Mi JQ, Chen SJ
Proc Natl Acad Sci U S A 2019 May 7;116(19):9543-9551. Epub 2019 Apr 15 doi: 10.1073/pnas.1819745116. PMID: 30988175Free PMC Article
Zhang W, Yu Y
Int J Mol Sci 2011;12(9):5672-83. Epub 2011 Sep 5 doi: 10.3390/ijms12095672. PMID: 22016618Free PMC Article

Prognosis

Cooper YA, Teyssier N, Dräger NM, Guo Q, Davis JE, Sattler SM, Yang Z, Patel A, Wu S, Kosuri S, Coppola G, Kampmann M, Geschwind DH
Science 2022 Aug 19;377(6608):eabi8654. doi: 10.1126/science.abi8654. PMID: 35981026
Xu J, Chen LJ, Yang SS, Sun Y, Wu W, Liu YF, Xu J, Zhuang Y, Zhang W, Weng XQ, Wu J, Wang Y, Wang J, Yan H, Xu WB, Jiang H, Du J, Ding XY, Li B, Li JM, Fu WJ, Zhu J, Zhu L, Chen Z, Fan XF, Hou J, Li JY, Mi JQ, Chen SJ
Proc Natl Acad Sci U S A 2019 May 7;116(19):9543-9551. Epub 2019 Apr 15 doi: 10.1073/pnas.1819745116. PMID: 30988175Free PMC Article
Steinlein OK, Ertl-Wagner B, Ruzicka T, Sattler EC
J Dtsch Dermatol Ges 2018 Mar;16(3):278-283. doi: 10.1111/ddg.13457. PMID: 29537177
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455
Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W
Science 1994 Oct 7;266(5182):66-71. doi: 10.1126/science.7545954. PMID: 7545954

Clinical prediction guides

Cooper YA, Teyssier N, Dräger NM, Guo Q, Davis JE, Sattler SM, Yang Z, Patel A, Wu S, Kosuri S, Coppola G, Kampmann M, Geschwind DH
Science 2022 Aug 19;377(6608):eabi8654. doi: 10.1126/science.abi8654. PMID: 35981026
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M
J Med Genet 2022 Feb;59(2):189-195. Epub 2020 Dec 24 doi: 10.1136/jmedgenet-2020-107225. PMID: 33361104
Westermann F, Schwab M
Cancer Lett 2002 Oct 28;184(2):127-47. doi: 10.1016/s0304-3835(02)00199-4. PMID: 12127685
Hutton M
Ann N Y Acad Sci 2000;920:63-73. doi: 10.1111/j.1749-6632.2000.tb06906.x. PMID: 11193178
Legius E, Descheemaeker MJ, Fryns JP, Van den Berghe H
Genet Couns 1994;5(3):225-41. PMID: 7811422

Recent systematic reviews

Ygland E, van Westen D, Englund E, Rademakers R, Wszolek ZK, Nilsson K, Nilsson C, Landqvist Waldö M, Alafuzoff I, Hansson O, Gustafson L, Puschmann A
Alzheimers Res Ther 2018 Jan 9;10(1):2. doi: 10.1186/s13195-017-0330-2. PMID: 29370822Free PMC Article
Villalba K, Attonito J, Mendy A, Devieux JG, Gasana J, Dorak TM
Psychiatr Genet 2015 Apr;25(2):47-58. doi: 10.1097/YPG.0000000000000078. PMID: 25710844
Kasuga K, Kikuchi M, Tokutake T, Nakaya A, Tezuka T, Tsukie T, Hara N, Miyashita A, Kuwano R, Ikeuchi T
J Hum Genet 2015 May;60(5):281-3. Epub 2015 Feb 19 doi: 10.1038/jhg.2015.15. PMID: 25694106Free PMC Article
Xiang YZ, Jiang SB, Zhao J, Xiong H, Cui ZL, Li GB, Jin XB
Genet Mol Res 2014 Aug 28;13(3):6582-92. doi: 10.4238/2014.August.28.3. PMID: 25177939

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