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Uniparental isodisomy

MedGen UID:
197433
•Concept ID:
C0969676
•
Cell or Molecular Dysfunction
Synonyms: Isodisomies, Uniparental; Uniparental Isodisomies; Uniparental Isodisomy
 
HPO: HP:0032384

Definition

A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUniparental isodisomy

Professional guidelines

PubMed

Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.
Defabianis P, Mussa A, Ninivaggi R, Carli D, Romano F
Int J Environ Res Public Health 2022 Feb 20;19(4) doi: 10.3390/ijerph19042448. PMID: 35206635Free PMC Article
Prenatal molecular testing and diagnosis of Beckwith-Wiedemann syndrome.
Baker SW, Ryan E, Kalish JM, Ganguly A
Prenat Diagn 2021 Jun;41(7):817-822. Epub 2021 May 18 doi: 10.1002/pd.5953. PMID: 33974722
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.
Sheppard SE, Lalonde E, Adzick NS, Beck AE, Bhatti T, De Leon DD, Duffy KA, Ganguly A, Hathaway E, Ji J, Linn R, Lord K, Randolph LM, Sajorda B, States L, Conlin LK, Kalish JM
Genet Med 2019 Nov;21(11):2644-2649. Epub 2019 May 31 doi: 10.1038/s41436-019-0551-9. PMID: 31147633Free PMC Article

Recent clinical studies

Etiology

The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. PMID: 36074711Free PMC Article
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG
Brain 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179. PMID: 34114613Free PMC Article
Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study.
Wang R, Xiao Y, Li D, Hu H, Li X, Ge T, Yu R, Wang Y, Zhang T
Ital J Pediatr 2020 Apr 29;46(1):55. doi: 10.1186/s13052-020-0819-3. PMID: 32349794Free PMC Article
A genetic study of Wilson's disease in the United Kingdom.
Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O
Brain 2013 May;136(Pt 5):1476-87. Epub 2013 Mar 21 doi: 10.1093/brain/awt035. PMID: 23518715Free PMC Article
Diagnostic proceeding in Silver-Russell syndrome.
Eggermann T, Meyer E, Ranke MB, Holder M, Spranger S, Zerres K, Wollmann HA
Mol Diagn 2005;9(4):205-9. doi: 10.1007/BF03260093. PMID: 16392900

Diagnosis

The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT
Int J Lab Hematol 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885. PMID: 36074711Free PMC Article
Molecular Definition of Pseudohypoparathyroidism Variants.
Jüppner H
J Clin Endocrinol Metab 2021 May 13;106(6):1541-1552. doi: 10.1210/clinem/dgab060. PMID: 33529330Free PMC Article
Epidemiology and introduction to the clinical presentation of Wilson disease.
Lo C, Bandmann O
Handb Clin Neurol 2017;142:7-17. doi: 10.1016/B978-0-444-63625-6.00002-1. PMID: 28433111
A genetic study of Wilson's disease in the United Kingdom.
Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O
Brain 2013 May;136(Pt 5):1476-87. Epub 2013 Mar 21 doi: 10.1093/brain/awt035. PMID: 23518715Free PMC Article
Transient neonatal diabetes, a disorder of imprinting.
Temple IK, Shield JP
J Med Genet 2002 Dec;39(12):872-5. doi: 10.1136/jmg.39.12.872. PMID: 12471198Free PMC Article

Therapy

iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes.
Akutsu SN, Miyamoto T, Oba D, Tomioka K, Ochiai H, Ohashi H, Matsuura S
PLoS One 2022;17(3):e0264965. Epub 2022 Mar 10 doi: 10.1371/journal.pone.0264965. PMID: 35271616Free PMC Article
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX, Norato G, Saade D, Paredes E, Biancavilla V, Donkervoort S, Kaur R, Lehky T, Fink M, Armao D, Gray SJ, Waite M, Debs S, Averion G, Hu Y, Zein WM, Foley AR, Jain M, Bönnemann CG
Brain 2021 Nov 29;144(10):3239-3250. doi: 10.1093/brain/awab179. PMID: 34114613Free PMC Article
Successful off-label sulfonylurea treatment of neonatal diabetes mellitus due to chromosome 6 abnormalities.
Garcin L, Kariyawasam D, Busiah K, Fauret-Amsellem AL, Le Bourgeois F, Vaivre-Douret L, Cavé H, Polak M, Beltrand J
Pediatr Diabetes 2018 Jun;19(4):663-669. Epub 2018 Mar 4 doi: 10.1111/pedi.12635. PMID: 29504184
Discordance for X-linked hypophosphataemic rickets in identical twin girls.
Owen CJ, Habeb A, Pearce SH, Wright M, Ichikawa S, Sorenson AH, Econs MJ, Cheetham TD
Horm Res 2009;71(4):237-44. Epub 2009 Mar 4 doi: 10.1159/000201113. PMID: 19258716
Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.
Bastepe M, Lane AH, Jüppner H
Am J Hum Genet 2001 May;68(5):1283-9. Epub 2001 Apr 9 doi: 10.1086/320117. PMID: 11294659Free PMC Article

Prognosis

Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians.
Defabianis P, Mussa A, Ninivaggi R, Carli D, Romano F
Int J Environ Res Public Health 2022 Feb 20;19(4) doi: 10.3390/ijerph19042448. PMID: 35206635Free PMC Article
A genetic study of Wilson's disease in the United Kingdom.
Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O
Brain 2013 May;136(Pt 5):1476-87. Epub 2013 Mar 21 doi: 10.1093/brain/awt035. PMID: 23518715Free PMC Article
The molecular basis of quantitative fibrinogen disorders.
Asselta R, Duga S, Tenchini ML
J Thromb Haemost 2006 Oct;4(10):2115-29. doi: 10.1111/j.1538-7836.2006.02094.x. PMID: 16999847
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A
Invest Ophthalmol Vis Sci 2000 Dec;41(13):4293-9. PMID: 11095629
Neonatal diabetes: new insights into aetiology and implications.
Shield JP
Horm Res 2000;53 Suppl 1:7-11. doi: 10.1159/000053198. PMID: 10895036

Clinical prediction guides

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.
Yamada M, Okuno H, Okamoto N, Suzuki H, Miya F, Takenouchi T, Kosaki K
Eur J Med Genet 2023 Feb;66(2):104690. Epub 2022 Dec 30 doi: 10.1016/j.ejmg.2022.104690. PMID: 36587803
Molecular Definition of Pseudohypoparathyroidism Variants.
Jüppner H
J Clin Endocrinol Metab 2021 May 13;106(6):1541-1552. doi: 10.1210/clinem/dgab060. PMID: 33529330Free PMC Article
A genetic study of Wilson's disease in the United Kingdom.
Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O
Brain 2013 May;136(Pt 5):1476-87. Epub 2013 Mar 21 doi: 10.1093/brain/awt035. PMID: 23518715Free PMC Article
The molecular basis of quantitative fibrinogen disorders.
Asselta R, Duga S, Tenchini ML
J Thromb Haemost 2006 Oct;4(10):2115-29. doi: 10.1111/j.1538-7836.2006.02094.x. PMID: 16999847
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS
Nature 2003 May 15;423(6937):293-8. Epub 2003 Apr 25 doi: 10.1038/nature01629. PMID: 12714972Free PMC Article

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