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Telomeric Allelic Imbalance Region

MedGen UID:
1388085
Concept ID:
C4331398
Cell or Molecular Dysfunction
Synonym: NtAI

Definition

A chromosomal aberration where the telomeric and subtelomeric regions of a chromosome does not have the expected 1:1 ratio for the alleles and telomeric sequences inherited from the two parental chromosomes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTelomeric Allelic Imbalance Region

Professional guidelines

PubMed

van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K; ERN ITHACA Guideline Working Group; European Phelan-McDermid syndrome guideline consortium, van Balkom IDC
Eur J Med Genet 2023 Jul;66(7):104747. Epub 2023 Mar 30 doi: 10.1016/j.ejmg.2023.104747. PMID: 37003574
Cammarata-Scalisi F, Callea M, Martinelli D, Willoughby CE, Tadich AC, Araya Castillo M, Lacruz-Rengel MA, Medina M, Grimaldi P, Bertini E, Nevado J
Genes (Basel) 2022 Mar 12;13(3) doi: 10.3390/genes13030504. PMID: 35328058Free PMC Article
Harony-Nicolas H, De Rubeis S, Kolevzon A, Buxbaum JD
J Child Neurol 2015 Dec;30(14):1861-70. Epub 2015 Sep 8 doi: 10.1177/0883073815600872. PMID: 26350728Free PMC Article

Recent clinical studies

Etiology

van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K; ERN ITHACA Guideline Working Group; European Phelan-McDermid syndrome guideline consortium, van Balkom IDC
Eur J Med Genet 2023 Jul;66(7):104747. Epub 2023 Mar 30 doi: 10.1016/j.ejmg.2023.104747. PMID: 37003574
Burdeus-Olavarrieta M, San José-Cáceres A, García-Alcón A, González-Peñas J, Hernández-Jusdado P, Parellada-Redondo M
J Neurodev Disord 2021 Jul 10;13(1):26. doi: 10.1186/s11689-021-09370-5. PMID: 34246244Free PMC Article
Neeb A, Herranz N, Arce-Gallego S, Miranda S, Buroni L, Yuan W, Athie A, Casals T, Carmichael J, Rodrigues DN, Gurel B, Rescigno P, Rekowski J, Welti J, Riisnaes R, Gil V, Ning J, Wagner V, Casanova-Salas I, Cordoba S, Castro N, Fenor de la Maza MD, Seed G, Chandran K, Ferreira A, Figueiredo I, Bertan C, Bianchini D, Aversa C, Paschalis A, Gonzalez M, Morales-Barrera R, Suarez C, Carles J, Swain A, Sharp A, Gil J, Serra V, Lord C, Carreira S, Mateo J, de Bono JS
Eur Urol 2021 Feb;79(2):200-211. Epub 2020 Nov 8 doi: 10.1016/j.eururo.2020.10.029. PMID: 33176972
Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P, Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR, Buckle VJ
J Med Genet 2020 Jun;57(6):414-421. Epub 2020 Jan 31 doi: 10.1136/jmedgenet-2019-106528. PMID: 32005695Free PMC Article
Zuffardi O, Bonaglia M, Ciccone R, Giorda R
Clin Genet 2009 Jun;75(6):505-13. doi: 10.1111/j.1399-0004.2009.01187.x. PMID: 19508415

Diagnosis

Schön M, Lapunzina P, Nevado J, Mattina T, Gunnarsson C, Hadzsiev K, Verpelli C, Bourgeron T, Jesse S, van Ravenswaaij-Arts CMA; European Phelan-McDermid syndrome consortium, Hennekam RC
Eur J Med Genet 2023 Jul;66(7):104754. Epub 2023 Mar 31 doi: 10.1016/j.ejmg.2023.104754. PMID: 37003575
van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K; ERN ITHACA Guideline Working Group; European Phelan-McDermid syndrome guideline consortium, van Balkom IDC
Eur J Med Genet 2023 Jul;66(7):104747. Epub 2023 Mar 30 doi: 10.1016/j.ejmg.2023.104747. PMID: 37003574
Cammarata-Scalisi F, Callea M, Martinelli D, Willoughby CE, Tadich AC, Araya Castillo M, Lacruz-Rengel MA, Medina M, Grimaldi P, Bertini E, Nevado J
Genes (Basel) 2022 Mar 12;13(3) doi: 10.3390/genes13030504. PMID: 35328058Free PMC Article
Burdeus-Olavarrieta M, San José-Cáceres A, García-Alcón A, González-Peñas J, Hernández-Jusdado P, Parellada-Redondo M
J Neurodev Disord 2021 Jul 10;13(1):26. doi: 10.1186/s11689-021-09370-5. PMID: 34246244Free PMC Article
Birkbak NJ, Wang ZC, Kim JY, Eklund AC, Li Q, Tian R, Bowman-Colin C, Li Y, Greene-Colozzi A, Iglehart JD, Tung N, Ryan PD, Garber JE, Silver DP, Szallasi Z, Richardson AL
Cancer Discov 2012 Apr;2(4):366-375. Epub 2012 Mar 22 doi: 10.1158/2159-8290.CD-11-0206. PMID: 22576213Free PMC Article

Therapy

Zuffardi O, Fichera M, Bonaglia MC
Eur J Med Genet 2022 Aug;65(8):104532. Epub 2022 Jun 17 doi: 10.1016/j.ejmg.2022.104532. PMID: 35724817
Neeb A, Herranz N, Arce-Gallego S, Miranda S, Buroni L, Yuan W, Athie A, Casals T, Carmichael J, Rodrigues DN, Gurel B, Rescigno P, Rekowski J, Welti J, Riisnaes R, Gil V, Ning J, Wagner V, Casanova-Salas I, Cordoba S, Castro N, Fenor de la Maza MD, Seed G, Chandran K, Ferreira A, Figueiredo I, Bertan C, Bianchini D, Aversa C, Paschalis A, Gonzalez M, Morales-Barrera R, Suarez C, Carles J, Swain A, Sharp A, Gil J, Serra V, Lord C, Carreira S, Mateo J, de Bono JS
Eur Urol 2021 Feb;79(2):200-211. Epub 2020 Nov 8 doi: 10.1016/j.eururo.2020.10.029. PMID: 33176972
Hamid A, Petreaca B, Petreaca R
Mutat Res 2019 May;815:30-40. Epub 2019 Apr 25 doi: 10.1016/j.mrfmmm.2019.04.002. PMID: 31096160Free PMC Article
Kraus JA, Albrecht S, Wiestler OD, von Schweinitz D, Pietsch T
Int J Cancer 1996 Aug 7;67(4):467-71. doi: 10.1002/(SICI)1097-0215(19960807)67:4<467::AID-IJC1>3.0.CO;2-Q. PMID: 8759602
Kobayashi H, Montgomery KT, Bohlander SK, Adra CN, Lim BL, Kucherlapati RS, Donis-Keller H, Holt MS, Le Beau MM, Rowley JD
Blood 1994 Nov 15;84(10):3473-82. PMID: 7949101

Prognosis

Vitrac A, Leblond CS, Rolland T, Cliquet F, Mathieu A, Maruani A, Delorme R, Schön M, Grabrucker AM, van Ravenswaaij-Arts C, Phelan K, Tabet AC, Bourgeron T
Eur J Med Genet 2023 May;66(5):104732. Epub 2023 Feb 21 doi: 10.1016/j.ejmg.2023.104732. PMID: 36822569
Burdeus-Olavarrieta M, San José-Cáceres A, García-Alcón A, González-Peñas J, Hernández-Jusdado P, Parellada-Redondo M
J Neurodev Disord 2021 Jul 10;13(1):26. doi: 10.1186/s11689-021-09370-5. PMID: 34246244Free PMC Article
Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L
PLoS One 2021;16(7):e0253859. Epub 2021 Jul 6 doi: 10.1371/journal.pone.0253859. PMID: 34228749Free PMC Article
Birkbak NJ, Wang ZC, Kim JY, Eklund AC, Li Q, Tian R, Bowman-Colin C, Li Y, Greene-Colozzi A, Iglehart JD, Tung N, Ryan PD, Garber JE, Silver DP, Szallasi Z, Richardson AL
Cancer Discov 2012 Apr;2(4):366-375. Epub 2012 Mar 22 doi: 10.1158/2159-8290.CD-11-0206. PMID: 22576213Free PMC Article
Jerez A, Gondek LP, Jankowska AM, Makishima H, Przychodzen B, Tiu RV, O'Keefe CL, Mohamedali AM, Batista D, Sekeres MA, McDevitt MA, Mufti GJ, Maciejewski JP
J Clin Oncol 2012 Apr 20;30(12):1343-9. Epub 2012 Feb 27 doi: 10.1200/JCO.2011.36.1824. PMID: 22370328Free PMC Article

Clinical prediction guides

Moffitt BA, Oberman LM, Beamer L, Srikanth S, Jain L, Cascio L, Jones K, Pauly R, May M, Skinner C, Buchanan C, DuPont BR, Kaufmann WE, Valentine K, Ward LD, Ivankovic D, Rogers RC, Phelan K, Sarasua SM, Boccuto L
Clin Genet 2023 Aug;104(2):198-209. Epub 2023 May 18 doi: 10.1111/cge.14361. PMID: 37198960Free PMC Article
Vitrac A, Leblond CS, Rolland T, Cliquet F, Mathieu A, Maruani A, Delorme R, Schön M, Grabrucker AM, van Ravenswaaij-Arts C, Phelan K, Tabet AC, Bourgeron T
Eur J Med Genet 2023 May;66(5):104732. Epub 2023 Feb 21 doi: 10.1016/j.ejmg.2023.104732. PMID: 36822569
Burdeus-Olavarrieta M, San José-Cáceres A, García-Alcón A, González-Peñas J, Hernández-Jusdado P, Parellada-Redondo M
J Neurodev Disord 2021 Jul 10;13(1):26. doi: 10.1186/s11689-021-09370-5. PMID: 34246244Free PMC Article
Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L
PLoS One 2021;16(7):e0253859. Epub 2021 Jul 6 doi: 10.1371/journal.pone.0253859. PMID: 34228749Free PMC Article
Birkbak NJ, Wang ZC, Kim JY, Eklund AC, Li Q, Tian R, Bowman-Colin C, Li Y, Greene-Colozzi A, Iglehart JD, Tung N, Ryan PD, Garber JE, Silver DP, Szallasi Z, Richardson AL
Cancer Discov 2012 Apr;2(4):366-375. Epub 2012 Mar 22 doi: 10.1158/2159-8290.CD-11-0206. PMID: 22576213Free PMC Article

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