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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

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.
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
Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.
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
Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.
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

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.
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
Characterisation of the clinical phenotype in Phelan-McDermid syndrome.
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
Advanced Prostate Cancer with ATM Loss: PARP and ATR Inhibitors.
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
ATR-16 syndrome: mechanisms linking monosomy to phenotype.
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
Inverted duplications deletions: underdiagnosed rearrangements??
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

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
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
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.
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
Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.
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
Characterisation of the clinical phenotype in Phelan-McDermid syndrome.
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
Telomeric allelic imbalance indicates defective DNA repair and sensitivity to DNA-damaging agents.
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

The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?
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
Advanced Prostate Cancer with ATM Loss: PARP and ATR Inhibitors.
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
Frequent homozygous deletions of the CDKN2A locus in somatic cancer tissues.
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
Loss of heterozygosity on chromosome 1 in human hepatoblastoma.
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
TP53 gene mutations and 17p deletions in human astrocytomas.
Chung R, Whaley J, Kley N, Anderson K, Louis D, Menon A, Hettlich C, Freiman R, Hedley-Whyte ET, Martuza R
Genes Chromosomes Cancer 1991 Sep;3(5):323-31. doi: 10.1002/gcc.2870030502. PMID: 1686725

Prognosis

Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
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
Characterisation of the clinical phenotype in Phelan-McDermid syndrome.
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
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
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
Implication of alterations in Parkin gene among North Indian patients with colorectal cancer.
Tiwari RR, Wahabi K, Perwez A, Bhat ZI, Hasan SS, Saluja SS, Rizvi MA
Turk J Gastroenterol 2020 Mar;31(3):211-220. doi: 10.5152/tjg.2020.18823. PMID: 32343233Free PMC Article
Telomeric allelic imbalance indicates defective DNA repair and sensitivity to DNA-damaging agents.
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

Clinical prediction guides

Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
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
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
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
Characterisation of the clinical phenotype in Phelan-McDermid syndrome.
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
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
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
Telomeric allelic imbalance indicates defective DNA repair and sensitivity to DNA-damaging agents.
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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