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Loss of Chromosome X

MedGen UID:
276491
Concept ID:
C1517996
Cell or Molecular Dysfunction
Synonym: del(X)

Definition

A cytogenetic abnormality that refers to loss of all or part of the X chromosome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Chromosome X

Professional guidelines

PubMed

Xie M, Li J, Hu H, Wang P, Cong X, Li J, Dai L, Lu Y, Zhang W
Int J Legal Med 2022 Mar;136(2):527-537. Epub 2022 Jan 31 doi: 10.1007/s00414-022-02780-7. PMID: 35102446
Nielsen OH, LaCasse EC
Genet Med 2017 Feb;19(2):133-143. Epub 2016 Jul 14 doi: 10.1038/gim.2016.82. PMID: 27416006
Barrenäs M, Landin-Wilhelmsen K, Hanson C
Hear Res 2000 Jun;144(1-2):21-8. doi: 10.1016/s0378-5955(00)00040-x. PMID: 10831862

Recent clinical studies

Etiology

Skuse D, Printzlau F, Wolstencroft J
Handb Clin Neurol 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. PMID: 29325624
Lolli F, Pallotti F, Rossi A, Fortuna MC, Caro G, Lenzi A, Sansone A, Lombardo F
Endocrine 2017 Jul;57(1):9-17. Epub 2017 Mar 28 doi: 10.1007/s12020-017-1280-y. PMID: 28349362
Wu C, Sun Z
Epigenomics 2016 Apr;8(4):447-50. Epub 2016 Apr 1 doi: 10.2217/epi.16.2. PMID: 27032507
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A
J Clin Endocrinol Metab 2013 Jan;98(1):20-30. Epub 2012 Nov 1 doi: 10.1210/jc.2012-2382. PMID: 23118429
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Diagnosis

Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Skuse D, Printzlau F, Wolstencroft J
Handb Clin Neurol 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. PMID: 29325624
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A
J Clin Endocrinol Metab 2013 Jan;98(1):20-30. Epub 2012 Nov 1 doi: 10.1210/jc.2012-2382. PMID: 23118429
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Therapy

Qian J, Guan X, Xie B, Xu C, Niu J, Tang X, Li CH, Colecraft HM, Jaenisch R, Liu XS
Sci Transl Med 2023 Jan 18;15(679):eadd4666. doi: 10.1126/scitranslmed.add4666. PMID: 36652535
Petriti U, Dudman DC, Scosyrev E, Lopez-Leon S
Syst Rev 2023 Jan 16;12(1):5. doi: 10.1186/s13643-023-02169-6. PMID: 36642718Free PMC Article
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Skuse D, Printzlau F, Wolstencroft J
Handb Clin Neurol 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. PMID: 29325624
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Prognosis

Richart L, Picod-Chedotel ML, Wassef M, Macario M, Aflaki S, Salvador MA, Héry T, Dauphin A, Wicinski J, Chevrier V, Pastor S, Guittard G, Le Cam S, Kamhawi H, Castellano R, Guasch G, Charafe-Jauffret E, Heard E, Margueron R, Ginestier C
Cell 2022 Jun 9;185(12):2164-2183.e25. Epub 2022 May 20 doi: 10.1016/j.cell.2022.04.034. PMID: 35597241
Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
Ishikawa Y, Kawashima N, Atsuta Y, Sugiura I, Sawa M, Dobashi N, Yokoyama H, Doki N, Tomita A, Kiguchi T, Koh S, Kanamori H, Iriyama N, Kohno A, Moriuchi Y, Asada N, Hirano D, Togitani K, Sakura T, Hagihara M, Tomikawa T, Yokoyama Y, Asou N, Ohtake S, Matsumura I, Miyazaki Y, Naoe T, Kiyoi H
Blood Adv 2020 Jan 14;4(1):66-75. doi: 10.1182/bloodadvances.2019000709. PMID: 31899799Free PMC Article
Rossetti R, Ferrari I, Bonomi M, Persani L
Clin Genet 2017 Feb;91(2):183-198. Epub 2016 Dec 12 doi: 10.1111/cge.12921. PMID: 27861765
Matsuo M
Southeast Asian J Trop Med Public Health 1995;26 Suppl 1:166-71. PMID: 8629099

Clinical prediction guides

Liu A, Genovese G, Zhao Y, Pirinen M, Zekavat SM, Kentistou KA, Yang Z, Yu K, Vlasschaert C, Liu X, Brown DW, Hudjashov G, Gorman BR, Dennis J, Zhou W, Momozawa Y, Pyarajan S, Tuzov V, Pajuste FD, Aavikko M, Sipilä TP, Ghazal A, Huang WY, Freedman ND, Song L, Gardner EJ; FinnGen; Estonian Biobank Research Team; Breast Cancer Association Consortium; Million Veteran Program, Sankaran VG, Palotie A, Ollila HM, Tukiainen T, Chanock SJ, Mägi R, Natarajan P, Daly MJ, Bick A, McCarroll SA, Terao C, Loh PR, Ganna A, Perry JRB, Machiela MJ
Nature 2024 Jul;631(8019):134-141. Epub 2024 Jun 12 doi: 10.1038/s41586-024-07533-7. PMID: 38867047
Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J
Orphanet J Rare Dis 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. PMID: 35821070Free PMC Article
Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR
Nat Genet 2009 May;41(5):535-43. Epub 2009 Apr 19 doi: 10.1038/ng.367. PMID: 19377476Free PMC Article
Netzer KO, Renders L, Zhou J, Pullig O, Tryggvason K, Weber M
Kidney Int 1992 Dec;42(6):1336-44. doi: 10.1038/ki.1992.425. PMID: 1474765
De M, Talukder G, Sharma A, Roy S, De S
Tumori 1991 Apr 30;77(2):170-1. doi: 10.1177/030089169107700217. PMID: 1646512

Recent systematic reviews

van der Veen I, Heredero Berzal A, Koster C, Ten Asbroek ALMA, Bergen AA, Boon CJF
Int J Mol Sci 2024 Jan 19;25(2) doi: 10.3390/ijms25021267. PMID: 38279267Free PMC Article
Petriti U, Dudman DC, Scosyrev E, Lopez-Leon S
Syst Rev 2023 Jan 16;12(1):5. doi: 10.1186/s13643-023-02169-6. PMID: 36642718Free PMC Article
Lolli F, Pallotti F, Rossi A, Fortuna MC, Caro G, Lenzi A, Sansone A, Lombardo F
Endocrine 2017 Jul;57(1):9-17. Epub 2017 Mar 28 doi: 10.1007/s12020-017-1280-y. PMID: 28349362
Su MT, Lin SH, Chen YC
Fertil Steril 2011 Dec;96(6):1435-1444.e1. Epub 2011 Oct 20 doi: 10.1016/j.fertnstert.2011.09.030. PMID: 22014881

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