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Chromosome inversion disorder

MedGen UID:
7145
Concept ID:
C0021943
Cell or Molecular Dysfunction
Synonym: Chromosome inversion
SNOMED CT: Genetic inversion (60844005); Chromosome inversion (72617005)
 
Monarch Initiative: MONDO:0043678

Definition

A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome. [from NCI]

Professional guidelines

PubMed

Hanlon VCT, Lansdorp PM, Guryev V
Hum Mutat 2022 Nov;43(11):1576-1589. Epub 2022 Sep 19 doi: 10.1002/humu.24458. PMID: 36047337
Borthakur G, Kantarjian H
Blood Cancer J 2021 Jun 16;11(6):114. doi: 10.1038/s41408-021-00503-6. PMID: 34135311Free PMC Article
Kaplan KA, Elsea SH, Potocki L
CNS Drugs 2020 Jul;34(7):723-730. doi: 10.1007/s40263-020-00733-5. PMID: 32495322

Recent clinical studies

Etiology

Degenhardt F, Ellinghaus D, Juzenas S, Lerga-Jaso J, Wendorff M, Maya-Miles D, Uellendahl-Werth F, ElAbd H, Rühlemann MC, Arora J, Özer O, Lenning OB, Myhre R, Vadla MS, Wacker EM, Wienbrandt L, Blandino Ortiz A, de Salazar A, Garrido Chercoles A, Palom A, Ruiz A, Garcia-Fernandez AE, Blanco-Grau A, Mantovani A, Zanella A, Holten AR, Mayer A, Bandera A, Cherubini A, Protti A, Aghemo A, Gerussi A, Ramirez A, Braun A, Nebel A, Barreira A, Lleo A, Teles A, Kildal AB, Biondi A, Caballero-Garralda A, Ganna A, Gori A, Glück A, Lind A, Tanck A, Hinney A, Carreras Nolla A, Fracanzani AL, Peschuck A, Cavallero A, Dyrhol-Riise AM, Ruello A, Julià A, Muscatello A, Pesenti A, Voza A, Rando-Segura A, Solier A, Schmidt A, Cortes B, Mateos B, Nafria-Jimenez B, Schaefer B, Jensen B, Bellinghausen C, Maj C, Ferrando C, de la Horra C, Quereda C, Skurk C, Thibeault C, Scollo C, Herr C, Spinner CD, Gassner C, Lange C, Hu C, Paccapelo C, Lehmann C, Angelini C, Cappadona C, Azuure C; COVICAT study group, Aachen Study (COVAS), Bianco C, Cea C, Sancho C, Hoff DAL, Galimberti D, Prati D, Haschka D, Jiménez D, Pestaña D, Toapanta D, Muñiz-Diaz E, Azzolini E, Sandoval E, Binatti E, Scarpini E, Helbig ET, Casalone E, Urrechaga E, Paraboschi EM, Pontali E, Reverter E, Calderón EJ, Navas E, Solligård E, Contro E, Arana-Arri E, Aziz F, Garcia F, García Sánchez F, Ceriotti F, Martinelli-Boneschi F, Peyvandi F, Kurth F, Blasi F, Malvestiti F, Medrano FJ, Mesonero F, Rodriguez-Frias F, Hanses F, Müller F, Hemmrich-Stanisak G, Bellani G, Grasselli G, Pezzoli G, Costantino G, Albano G, Cardamone G, Bellelli G, Citerio G, Foti G, Lamorte G, Matullo G, Baselli G, Kurihara H, Neb H, My I, Kurth I, Hernández I, Pink I, de Rojas I, Galván-Femenia I, Holter JC, Afset JE, Heyckendorf J, Kässens J, Damås JK, Rybniker J, Altmüller J, Ampuero J, Martín J, Erdmann J, Banales JM, Badia JR, Dopazo J, Schneider J, Bergan J, Barretina J, Walter J, Hernández Quero J, Goikoetxea J, Delgado J, Guerrero JM, Fazaal J, Kraft J, Schröder J, Risnes K, Banasik K, Müller KE, Gaede KI, Garcia-Etxebarria K, Tonby K, Heggelund L, Izquierdo-Sanchez L, Bettini LR, Sumoy L, Sander LE, Lippert LJ, Terranova L, Nkambule L, Knopp L, Gustad LT, Garbarino L, Santoro L, Téllez L, Roade L, Ostadreza M, Intxausti M, Kogevinas M, Riveiro-Barciela M, Berger MM, Schaefer M, Niemi MEK, Gutiérrez-Stampa MA, Carrabba M, Figuera Basso ME, Valsecchi MG, Hernandez-Tejero M, Vehreschild MJGT, Manunta M, Acosta-Herrera M, D'Angiò M, Baldini M, Cazzaniga M, Grimsrud MM, Cornberg M, Nöthen MM, Marquié M, Castoldi M, Cordioli M, Cecconi M, D'Amato M, Augustin M, Tomasi M, Boada M, Dreher M, Seilmaier MJ, Joannidis M, Wittig M, Mazzocco M, Ciccarelli M, Rodríguez-Gandía M, Bocciolone M, Miozzo M, Imaz Ayo N, Blay N, Chueca N, Montano N, Braun N, Ludwig N, Marx N, Martínez N; Norwegian SARS-CoV-2 Study group, Cornely OA, Witzke O, Palmieri O; Pa Study Group, Faverio P, Preatoni P, Bonfanti P, Omodei P, Tentorio P, Castro P, Rodrigues PM, España PP, Hoffmann P, Rosenstiel P, Schommers P, Suwalski P, de Pablo R, Ferrer R, Bals R, Gualtierotti R, Gallego-Durán R, Nieto R, Carpani R, Morilla R, Badalamenti S, Haider S, Ciesek S, May S, Bombace S, Marsal S, Pigazzini S, Klein S, Pelusi S, Wilfling S, Bosari S, Volland S, Brunak S, Raychaudhuri S, Schreiber S, Heilmann-Heimbach S, Aliberti S, Ripke S, Dudman S, Wesse T, Zheng T; STORM Study group, The Humanitas Task Force, The Humanitas Gavazzeni Task Force, Bahmer T, Eggermann T, Illig T, Brenner T, Pumarola T, Feldt T, Folseraas T, Gonzalez Cejudo T, Landmesser U, Protzer U, Hehr U, Rimoldi V, Monzani V, Skogen V, Keitel V, Kopfnagel V, Friaza V, Andrade V, Moreno V, Albrecht W, Peter W, Poller W, Farre X, Yi X, Wang X, Khodamoradi Y, Karadeniz Z, Latiano A, Goerg S, Bacher P, Koehler P, Tran F, Zoller H, Schulte EC, Heidecker B, Ludwig KU, Fernández J, Romero-Gómez M, Albillos A, Invernizzi P, Buti M, Duga S, Bujanda L, Hov JR, Lenz TL, Asselta R, de Cid R, Valenti L, Karlsen TH, Cáceres M, Franke A
Hum Mol Genet 2022 Nov 28;31(23):3945-3966. doi: 10.1093/hmg/ddac158. PMID: 35848942Free PMC Article
Borthakur G, Kantarjian H
Blood Cancer J 2021 Jun 16;11(6):114. doi: 10.1038/s41408-021-00503-6. PMID: 34135311Free PMC Article
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Goddijn M, Leschot NJ
Baillieres Best Pract Res Clin Obstet Gynaecol 2000 Oct;14(5):855-65. doi: 10.1053/beog.2000.0124. PMID: 11023805

Diagnosis

Dremsek P, Schwarz T, Weil B, Malashka A, Laccone F, Neesen J
Genes (Basel) 2021 Dec 8;12(12) doi: 10.3390/genes12121958. PMID: 34946907Free PMC Article
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Hervé D, Chabriat H
J Geriatr Psychiatry Neurol 2010 Dec;23(4):269-76. doi: 10.1177/0891988710383570. PMID: 21045164
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Goddijn M, Leschot NJ
Baillieres Best Pract Res Clin Obstet Gynaecol 2000 Oct;14(5):855-65. doi: 10.1053/beog.2000.0124. PMID: 11023805

Therapy

Borthakur G, Kantarjian H
Blood Cancer J 2021 Jun 16;11(6):114. doi: 10.1038/s41408-021-00503-6. PMID: 34135311Free PMC Article
Kaplan KA, Elsea SH, Potocki L
CNS Drugs 2020 Jul;34(7):723-730. doi: 10.1007/s40263-020-00733-5. PMID: 32495322
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Solh M, Yohe S, Weisdorf D, Ustun C
Am J Hematol 2014 Dec;89(12):1121-31. Epub 2014 Aug 27 doi: 10.1002/ajh.23821. PMID: 25088818
Cahill MR, Colvin BT
Postgrad Med J 1997 Apr;73(858):201-6. doi: 10.1136/pgmj.73.858.201. PMID: 9156121Free PMC Article

Prognosis

Kosuthova K, Solc R
Am J Med Genet A 2023 Mar;191(3):672-683. Epub 2022 Dec 10 doi: 10.1002/ajmg.a.63063. PMID: 36495134
Borthakur G, Kantarjian H
Blood Cancer J 2021 Jun 16;11(6):114. doi: 10.1038/s41408-021-00503-6. PMID: 34135311Free PMC Article
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Cahill MR, Colvin BT
Postgrad Med J 1997 Apr;73(858):201-6. doi: 10.1136/pgmj.73.858.201. PMID: 9156121Free PMC Article

Clinical prediction guides

Al-Zain AM, Nester MR, Ahmed I, Symington LS
Nat Commun 2023 Nov 2;14(1):7020. doi: 10.1038/s41467-023-42640-5. PMID: 37919272Free PMC Article
Kosuthova K, Solc R
Am J Med Genet A 2023 Mar;191(3):672-683. Epub 2022 Dec 10 doi: 10.1002/ajmg.a.63063. PMID: 36495134
Schubert I
Chromosoma 2018 Jun;127(2):229-234. Epub 2018 Apr 28 doi: 10.1007/s00412-018-0672-y. PMID: 29705818
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Allderdice PW, Eales B, Onyett H, Sprague W, Henderson K, Lefeuvre PA, Pal G
Am J Hum Genet 1983 Sep;35(5):1005-19. PMID: 6613995Free PMC Article

Recent systematic reviews

Mohsen-Pour N, Talebi T, Naderi N, Moghadam MH, Maleki M, Kalayinia S
Curr Mol Med 2022;22(5):385-400. doi: 10.2174/1566524021666210806161128. PMID: 34365947
Carvalho V, Ferreira JJ, Correia Guedes L
Mov Disord 2021 Sep;36(9):2017-2025. Epub 2021 May 31 doi: 10.1002/mds.28663. PMID: 34056754

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