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Paternal uniparental disomy of chromosome 5

MedGen UID:
1652849
•Concept ID:
C4749377
•
Disease or Syndrome
Synonyms: paternal uniparental disomy of chromosome 5; paternal uniparental disomy of chromosome type 5; UPD(5)pat
SNOMED CT: Paternal uniparental disomy of chromosome 5 (770669004)
 
Monarch Initiative: MONDO:0019920
Orphanet: ORPHA96190

Definition

Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPaternal uniparental disomy of chromosome 5

Recent clinical studies

Diagnosis

Intrauterine growth restriction associated with paternal isodisomy of chromosome 5: a clinical report and literature survey.
Kunwar F, Pabst R, Bakshi S
J Matern Fetal Neonatal Med 2020 Mar;33(6):1027-1029. Epub 2018 Sep 6 doi: 10.1080/14767058.2018.1506443. PMID: 30189761
Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.
Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA
Clin Genet 2004 Jun;65(6):477-82. doi: 10.1111/j.0009-9163.2004.00261.x. PMID: 15151506

Clinical prediction guides

Intrauterine growth restriction associated with paternal isodisomy of chromosome 5: a clinical report and literature survey.
Kunwar F, Pabst R, Bakshi S
J Matern Fetal Neonatal Med 2020 Mar;33(6):1027-1029. Epub 2018 Sep 6 doi: 10.1080/14767058.2018.1506443. PMID: 30189761

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