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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

Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome.
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

Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking.
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
Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22.
Huang YH, Tai CL, Lu YH, Wu TJ, Chen HD, Niu DM
Blood Cells Mol Dis 2012 Aug 15;49(2):114-7. Epub 2012 May 30 doi: 10.1016/j.bcmd.2012.05.005. PMID: 22658170
Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate.
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
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
Origin of uniparental disomy 6: presentation of a new case and review on the literature.
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

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
Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal uniparental disomy 18.
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
Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.
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
Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7.
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
Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus.
Bilimoria KY, Rothenberg JM
Am J Med Genet A 2003 Apr 1;118A(1):60-3. doi: 10.1002/ajmg.a.10101. PMID: 12605443

Therapy

Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24.
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

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.
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
Infantile neuroaxonal dystrophy caused by uniparental disomy.
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
Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations.
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
A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy.
Slater HR, Ralph A, Daniel A, Worthington S, Roberts C
Prenat Diagn 2000 Nov;20(11):930-2. doi: 10.1002/1097-0223(200011)20:11<930::aid-pd955>3.0.co;2-e. PMID: 11113900
Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16.
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

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
Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.
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
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
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.
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
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.
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

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