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Genetic anticipation

MedGen UID:
109454
•Concept ID:
C0600498
•
Organism Attribute
Synonyms: Anticipation, Genetic; Genetic Anticipation
 
HPO: HP:0003743

Definition

A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenetic anticipation

Professional guidelines

PubMed

A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome.
Boonstra PS, Gruber SB, Raymond VM, Huang SC, Timshel S, Nilbert M, Mukherjee B
Genet Epidemiol 2010 Nov;34(7):756-68. doi: 10.1002/gepi.20534. PMID: 20878717Free PMC Article
The presence of genetic anticipation suggests that the molecular basis of familial primary pulmonary hypertension may be trinucleotide repeat expansion.
Loyd JE, Slovis B, Phillips JA 3rd, Butler MG, Foroud TM, Conneally PM, Newman JH
Chest 1997 Jun;111(6 Suppl):82S-83S. doi: 10.1378/chest.111.6_supplement.82s. PMID: 9184540Free PMC Article
Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension.
Loyd JE, Butler MG, Foroud TM, Conneally PM, Phillips JA 3rd, Newman JH
Am J Respir Crit Care Med 1995 Jul;152(1):93-7. doi: 10.1164/ajrccm.152.1.7599869. PMID: 7599869Free PMC Article

Recent systematic reviews

1q21.1 Microduplication expression in adults.
Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS
Genet Med 2013 Apr;15(4):282-9. Epub 2012 Sep 27 doi: 10.1038/gim.2012.129. PMID: 23018752Free PMC Article
Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review.
Wardle M, Morris HR, Robertson NP
Mov Disord 2009 Aug 15;24(11):1636-40. doi: 10.1002/mds.22642. PMID: 19514013
Familial occurrence of brain arteriovenous malformations: a systematic review.
van Beijnum J, van der Worp HB, Schippers HM, van Nieuwenhuizen O, Kappelle LJ, Rinkel GJ, Berkelbach van der Sprenkel JW, Klijn CJ
J Neurol Neurosurg Psychiatry 2007 Nov;78(11):1213-7. Epub 2007 Jan 26 doi: 10.1136/jnnp.2006.112227. PMID: 17259353Free PMC Article

Supplemental Content

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