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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

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
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
Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T
Eur J Hum Genet 2015 May;23(5):663-71. Epub 2014 Aug 13 doi: 10.1038/ejhg.2014.153. PMID: 25118026Free PMC Article

Recent clinical studies

Etiology

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
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
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
Castanet M, Polak M
Horm Res Paediatr 2010;73(6):423-9. Epub 2010 May 6 doi: 10.1159/000281438. PMID: 20453517
Ferrer-Bolufer I, Dalmau J, Quiroga R, Oltra S, Orellana C, Monfort S, Roselló M, De La Osa A, Martinez F
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S349-53. Epub 2009 Dec 23 doi: 10.1007/s10545-009-9014-9. PMID: 20033293

Diagnosis

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
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
Jüppner H
J Clin Endocrinol Metab 2021 May 13;106(6):1541-1552. doi: 10.1210/clinem/dgab060. PMID: 33529330Free PMC Article
Lo C, Bandmann O
Handb Clin Neurol 2017;142:7-17. doi: 10.1016/B978-0-444-63625-6.00002-1. PMID: 28433111
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

Therapy

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
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
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
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
Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S
Diabetes 2008 Jan;57(1):259-63. Epub 2007 Oct 17 doi: 10.2337/db07-0998. PMID: 17942822

Prognosis

Rudd MK, Schleede JB, Williams SR, Lee K, Laffin J, Pasion R, Papenhausen PR
Prenat Diagn 2018 Nov;38(12):920-923. Epub 2018 Sep 24 doi: 10.1002/pd.5349. PMID: 30156302
Cassini TA, Robertson AK, Bican AG, Cogan JD, Hannig VL, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network
Am J Med Genet A 2018 May;176(5):1175-1179. Epub 2018 Jan 17 doi: 10.1002/ajmg.a.38493. PMID: 29341437Free PMC Article
Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, Deardorff MA
J Med Genet 2016 Jan;53(1):53-61. Epub 2015 Nov 6 doi: 10.1136/jmedgenet-2015-103394. PMID: 26545876Free PMC Article
Sahoo T, Wang JC, Elnaggar MM, Sanchez-Lara P, Ross LP, Mahon LW, Hafezi K, Deming A, Hinman L, Bruno Y, Bartley JA, Liehr T, Anguiano A, Jones M
Eur J Hum Genet 2015 Jan;23(1):61-6. Epub 2014 Apr 9 doi: 10.1038/ejhg.2014.53. PMID: 24713661Free PMC Article
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

Clinical prediction guides

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
Jüppner H
J Clin Endocrinol Metab 2021 May 13;106(6):1541-1552. doi: 10.1210/clinem/dgab060. PMID: 33529330Free PMC Article
Tafaj O, Jüppner H
J Endocrinol Invest 2017 Apr;40(4):347-356. Epub 2016 Dec 19 doi: 10.1007/s40618-016-0588-4. PMID: 27995443
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
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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