Recurrence risk for sibs of children with "sporadic" achondroplasia
Affiliations
- PMID: 10678665
Item in Clipboard
Recurrence risk for sibs of children with "sporadic" achondroplasia
Am J Med Genet.
.
Abstract
Because of gonadal mosaicism, the risk of recurrence of achondroplasia in the sibs of achondroplastic children with unaffected parents is presumably higher than twice the mutation rate, but it has not been measured. Data from 11 Canadian genetics centers provide an estimate of 1/443, or 0.02%.
Similar articles
-
Genetic counselling in unexpected familial recurrence of achondroplasia.Am J Med Genet. 1987 Dec;28(4):949-54. doi: 10.1002/ajmg.1320280421. Am J Med Genet. 1987. PMID: 3688033
-
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.Eur J Hum Genet. 2006 May;14(5):549-54. doi: 10.1038/sj.ejhg.5201586. Eur J Hum Genet. 2006. PMID: 16538226
-
Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents.Clin Genet. 1983 Sep;24(3):156-8. doi: 10.1111/j.1399-0004.1983.tb02232.x. Clin Genet. 1983. PMID: 6627718
-
Evolution of the bone dysplasia family.Am J Med Genet. 1996 May 3;63(1):4-6. doi: 10.1002/(SICI)1096-8628(19960503)63:1<4::AID-AJMG3>3.0.CO;2-Y. Am J Med Genet. 1996. PMID: 8723078 Review. No abstract available.
-
A parent's guide to the genetics of Down syndrome.Adv Neonatal Care. 2009 Feb;9(1):27-30. doi: 10.1097/01.ANC.0000346092.50981.c0. Adv Neonatal Care. 2009. PMID: 19212162 Review.
Cited by
-
Germline mosaicism in Cornelia de Lange syndrome.Am J Med Genet A. 2012 Jun;158A(6):1481-5. doi: 10.1002/ajmg.a.35381. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581668 Free PMC article.
-
Achondroplasia: a comprehensive clinical review.Orphanet J Rare Dis. 2019 Jan 3;14(1):1. doi: 10.1186/s13023-018-0972-6. Orphanet J Rare Dis. 2019. PMID: 30606190 Free PMC article. Review.
-
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.Am J Med Genet A. 2008 Sep 15;146A(18):2385-9. doi: 10.1002/ajmg.a.32485. Am J Med Genet A. 2008. PMID: 18698630 Free PMC article.
-
Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.Indian J Pediatr. 2009 Feb;76(2):147-9. doi: 10.1007/s12098-009-0044-y. Epub 2009 Mar 28. Indian J Pediatr. 2009. PMID: 19330302
-
Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India.J Pediatr Genet. 2021 Jul 7;12(1):42-47. doi: 10.1055/s-0041-1731684. eCollection 2023 Mar. J Pediatr Genet. 2021. PMID: 36684552 Free PMC article.
MeSH terms
LinkOut - more resources
Full Text Sources