U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Uniparental heterodisomy

MedGen UID:
197432
Concept ID:
C0969675
Cell or Molecular Dysfunction
Synonyms: Heterodisomies, Uniparental; Heterodisomy, Uniparental; Uniparental Heterodisomies; Uniparental Heterodisomy
 
HPO: HP:0032383

Definition

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

Term Hierarchy

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

Professional guidelines

PubMed

Vgontzas AN, Kales A, Seip J, Mascari MJ, Bixler EO, Myers DC, Vela-Bueno AV, Rogan PK
Am J Med Genet 1996 Sep 20;67(5):478-82. doi: 10.1002/(SICI)1096-8628(19960920)67:5<478::AID-AJMG7>3.0.CO;2-G. PMID: 8886165

Recent clinical studies

Etiology

Liu S, Zhang K, Song F, Yang Y, Lv Y, Gao M, Liu Y, Gai Z
Cytogenet Genome Res 2017;152(1):1-8. Epub 2017 Jun 24 doi: 10.1159/000477520. PMID: 28647735
Solomons J, Ridgway O, Hardy C, Kurian MA, Jayawant S, Hughes S, Pretorius P, Németh AH
Dev Med Child Neurol 2014 Apr;56(4):386-9. Epub 2013 Nov 15 doi: 10.1111/dmcn.12327. PMID: 24628589
Salahshourifar I, Halim AS, Sulaiman WA, Zilfalil BA
Am J Med Genet A 2010 Jul;152A(7):1818-21. doi: 10.1002/ajmg.a.33526. PMID: 20583164
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
Eggermann T, Marg W, Mergenthaler S, Eggermann K, Schemmel V, Stoffers U, Zerres K, Spranger S
Ann Genet 2001 Jan-Mar;44(1):41-5. doi: 10.1016/s0003-3995(01)01035-8. PMID: 11334617

Diagnosis

Chen CP, Wu FT, Pan YT, Chern SR, Wu PS, Chiu CL, Lee CC, Chen WL, Wang W
Taiwan J Obstet Gynecol 2023 Jul;62(4):606-610. doi: 10.1016/j.tjog.2023.05.012. PMID: 37407205
Chen CP, Wu FT, Chern SR, Wu PS, Pan YT, Lee CC, Pan CW, Wang W
Taiwan J Obstet Gynecol 2023 Jul;62(4):571-576. doi: 10.1016/j.tjog.2023.05.002. PMID: 37407197
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
Chen CP, Su JW, Chern SR, Wu PS, Chen SW, Wu FT, Chen WL, Lee MS, Pan CW, Chen YY, Wang W
Taiwan J Obstet Gynecol 2022 Jul;61(4):684-689. doi: 10.1016/j.tjog.2022.05.005. PMID: 35779922
Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC
Birth Defects Res A Clin Mol Teratol 2005 Aug;73(8):577-82. doi: 10.1002/bdra.20174. PMID: 16007591

Therapy

Milenkovic T, Martic J, Robinson DO, Mackay DJ, Petrovic K, Zdravkovic D
J Pediatr Endocrinol Metab 2006 Nov;19(11):1353-7. doi: 10.1515/jpem.2006.19.11.1353. PMID: 17220064

Prognosis

Zeesman S, McCready E, Sadikovic B, Nowaczyk MJ
Am J Med Genet A 2015 Jan;167A(1):180-4. Epub 2014 Oct 6 doi: 10.1002/ajmg.a.36790. PMID: 25287655
Solomons J, Ridgway O, Hardy C, Kurian MA, Jayawant S, Hughes S, Pretorius P, Németh AH
Dev Med Child Neurol 2014 Apr;56(4):386-9. Epub 2013 Nov 15 doi: 10.1111/dmcn.12327. PMID: 24628589
Hahnemann JM, Nir M, Friberg M, Engel U, Bugge M
Am J Med Genet A 2005 Oct 1;138A(2):150-4. doi: 10.1002/ajmg.a.30908. PMID: 16114048
Schneider AS, Bischoff FZ, McCaskill C, Coady ML, Stopfer JE, Shaffer LG
Am J Med Genet 1996 Dec 11;66(2):204-8. doi: 10.1002/(SICI)1096-8628(19961211)66:2<204::AID-AJMG16>3.0.CO;2-X. PMID: 8958332
Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Hsu WT, Oeztas S, Pepkowitz S, Graham JM Jr
Prenat Diagn 1994 Apr;14(4):257-66. doi: 10.1002/pd.1970140405. PMID: 8066035

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
Abdelhedi F, El Khattabi L, Cuisset L, Tsatsaris V, Viot G, Druart L, Lebbar A, Dupont JM
Am J Clin Pathol 2014 Aug;142(2):248-53. doi: 10.1309/AJCPBLMPRXKU1JUE. PMID: 25015868
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
Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray B, Schluth C, Marcellin L, Boehm N, Goossens M, Pingault V
Eur J Hum Genet 2005 Sep;13(9):1013-8. doi: 10.1038/sj.ejhg.5201442. PMID: 15915162
Sanlaville D, Aubry MC, Dumez Y, Nolen MC, Amiel J, Pinson MP, Lyonnet S, Munnich A, Vekemans M, Morichon-Delvallez N
J Med Genet 2000 Jul;37(7):525-8. doi: 10.1136/jmg.37.7.525. PMID: 10882756Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...