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Uniparental disomy of maternal origin

MedGen UID:
1371247
•Concept ID:
C4518512
•
Cell or Molecular Dysfunction
Synonym: Maternal uniparental disomy
SNOMED CT: Uniparental disomy of maternal origin (726401004); Maternal uniparental disomy (726401004)
 
Orphanet: ORPHA98153

Professional guidelines

PubMed

Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.
Liang B, Yu D, Zhao W, Wang Y, Wang X, Wu X, Chen L, Chen M, Zhang M, Chen X, Lin N, Huang H, Xu L
J Hum Genet 2022 Nov;67(11):629-638. Epub 2022 Jul 27 doi: 10.1038/s10038-022-01062-9. PMID: 35896820
Genetic testing on products of conception and its relationship with body mass index.
Wang L, Xu J, Niu W, Hu L, Zhang Y, Sun Y
J Assist Reprod Genet 2020 Aug;37(8):1853-1860. Epub 2020 Jun 9 doi: 10.1007/s10815-020-01849-9. PMID: 32519011Free PMC Article
Silver-Russell syndrome: genetic basis and molecular genetic testing.
Eggermann T, Begemann M, Binder G, Spengler S
Orphanet J Rare Dis 2010 Jun 23;5:19. doi: 10.1186/1750-1172-5-19. PMID: 20573229Free PMC Article

Recent clinical studies

Etiology

Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome.
Aman LCS, Manning KE, Whittington JE, Holland AJ
Lancet Psychiatry 2018 Apr;5(4):370-378. Epub 2018 Jan 16 doi: 10.1016/S2215-0366(18)30009-9. PMID: 29352661
Non-invasive prenatal testing for aneuploidy: current status and future prospects.
Benn P, Cuckle H, Pergament E
Ultrasound Obstet Gynecol 2013 Jul;42(1):15-33. doi: 10.1002/uog.12513. PMID: 23765643
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB
Hum Mol Genet 2010 Apr 1;19(7):1263-75. Epub 2010 Jan 6 doi: 10.1093/hmg/ddq003. PMID: 20053666Free PMC Article
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
An audit of trisomy 16 in man.
Wolstenholme J
Prenat Diagn 1995 Feb;15(2):109-21. doi: 10.1002/pd.1970150202. PMID: 7784361

Diagnosis

Prenatal Diagnosis and Fetal Outcome with Mosaic Genome-Wide Uniparental Disomy.
Jawahir-Schonauer J, Norman A, Mbanugo C, Yu G, Rowsey RA, MacDonald E, Romero VC
Fetal Diagn Ther 2022;49(7-8):301-305. Epub 2022 Aug 18 doi: 10.1159/000526504. PMID: 35981514
Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.
Liang B, Yu D, Zhao W, Wang Y, Wang X, Wu X, Chen L, Chen M, Zhang M, Chen X, Lin N, Huang H, Xu L
J Hum Genet 2022 Nov;67(11):629-638. Epub 2022 Jul 27 doi: 10.1038/s10038-022-01062-9. PMID: 35896820
Silver-Russell syndrome.
Binder G, Begemann M, Eggermann T, Kannenberg K
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):153-60. doi: 10.1016/j.beem.2010.06.005. PMID: 21396582
Uniparental disomies 7 and 14.
Hoffmann K, Heller R
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):77-100. doi: 10.1016/j.beem.2010.09.004. PMID: 21396576
Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: the "Likon" concept).
Engel E
Ann Genet 1997;40(1):24-34. PMID: 9150847

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
Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.
Tamura M, Isojima T, Kawashima M, Yoshida H, Yamamoto K, Kitaoka T, Namba N, Oka A, Ozono K, Tokunaga K, Kitanaka S
PLoS One 2015;10(7):e0131157. Epub 2015 Jul 8 doi: 10.1371/journal.pone.0131157. PMID: 26153892Free PMC Article
Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.
Cardarelli L, Sparago A, De Crescenzo A, Nalesso E, Zavan B, Cubellis MV, Selicorni A, Cavicchioli P, Pozzan GB, Petrella M, Riccio A
Pediatr Dev Pathol 2010 Jul-Aug;13(4):326-30. doi: 10.2350/09-07-0686-CR.1. PMID: 20028213
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.
Robinson WP, Christian SL, Kuchinka BD, Peñaherrera MS, Das S, Schuffenhauer S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH
Clin Genet 2000 May;57(5):349-58. doi: 10.1034/j.1399-0004.2000.570505.x. PMID: 10852369
Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.
Lau AW, Brown CJ, Peñaherrera M, Langlois S, Kalousek DK, Robinson WP
Am J Hum Genet 1997 Dec;61(6):1353-61. doi: 10.1086/301651. PMID: 9399909Free PMC Article

Prognosis

Incidence and origin of meiotic whole and segmental chromosomal aneuploidies detected by karyomapping.
Kubicek D, Hornak M, Horak J, Navratil R, Tauwinklova G, Rubes J, Vesela K
Reprod Biomed Online 2019 Mar;38(3):330-339. Epub 2018 Dec 23 doi: 10.1016/j.rbmo.2018.11.023. PMID: 30639160
Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.
Hannula-Jouppi K, Muurinen M, Lipsanen-Nyman M, Reinius LE, Ezer S, Greco D, Kere J
Epigenetics 2014 Mar;9(3):351-65. Epub 2013 Nov 18 doi: 10.4161/epi.27160. PMID: 24247273Free PMC Article
Silver-Russell syndrome: genetic basis and molecular genetic testing.
Eggermann T, Begemann M, Binder G, Spengler S
Orphanet J Rare Dis 2010 Jun 23;5:19. doi: 10.1186/1750-1172-5-19. PMID: 20573229Free PMC Article
Genomic imprinting disorders in humans: a mini-review.
Butler MG
J Assist Reprod Genet 2009 Sep-Oct;26(9-10):477-86. Epub 2009 Oct 21 doi: 10.1007/s10815-009-9353-3. PMID: 19844787Free PMC Article
Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: the "Likon" concept).
Engel E
Ann Genet 1997;40(1):24-34. PMID: 9150847

Clinical prediction guides

Incidence and origin of meiotic whole and segmental chromosomal aneuploidies detected by karyomapping.
Kubicek D, Hornak M, Horak J, Navratil R, Tauwinklova G, Rubes J, Vesela K
Reprod Biomed Online 2019 Mar;38(3):330-339. Epub 2018 Dec 23 doi: 10.1016/j.rbmo.2018.11.023. PMID: 30639160
Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome.
Aman LCS, Manning KE, Whittington JE, Holland AJ
Lancet Psychiatry 2018 Apr;5(4):370-378. Epub 2018 Jan 16 doi: 10.1016/S2215-0366(18)30009-9. PMID: 29352661
Small supernumerary marker chromosomes and uniparental disomy have a story to tell.
Liehr T, Ewers E, Hamid AB, Kosyakova N, Voigt M, Weise A, Manvelyan M
J Histochem Cytochem 2011 Sep;59(9):842-8. Epub 2011 Jun 14 doi: 10.1369/0022155411412780. PMID: 21673185Free PMC Article
Silver-Russell syndrome.
Binder G, Begemann M, Eggermann T, Kannenberg K
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):153-60. doi: 10.1016/j.beem.2010.06.005. PMID: 21396582
Molecular biology of Beckwith-Wiedemann syndrome.
Weksberg R, Squire JA
Med Pediatr Oncol 1996 Nov;27(5):462-9. doi: 10.1002/(SICI)1096-911X(199611)27:5<462::AID-MPO13>3.0.CO;2-C. PMID: 8827075

Recent systematic reviews

Psychotic illness in people with Prader-Willi syndrome: a systematic review of clinical presentation, course and phenomenology.
Aman LCS, Lester SD, Holland AJ, Fletcher PC
Orphanet J Rare Dis 2024 Feb 15;19(1):69. doi: 10.1186/s13023-024-03026-y. PMID: 38360662Free PMC Article

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