Literature DB >> 10678665

Recurrence risk for sibs of children with "sporadic" achondroplasia.

G Mettler1, F C Fraser.   

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%.

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Mesh：

Year:  2000        PMID： 10678665

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

1.  Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

Authors:  Ian M Campbell; Jonathan R Stewart; Regis A James; James R Lupski; Paweł Stankiewicz; Peter Olofsson; Chad A Shaw
Journal:  Am J Hum Genet       Date:  2014-09-18       Impact factor: 11.025

2.  Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Authors:  Anne Goriely; Helen Lord; Jasmine Lim; David Johnson; Tracy Lester; Helen V Firth; Andrew O M Wilkie
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

Review 3.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

4.  The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.

Authors:  D K Waller; A Correa; Tuan M Vo; Y Wang; C Hobbs; P H Langlois; K Pearson; P A Romitti; G M Shaw; J T Hecht
Journal:  Am J Med Genet A       Date:  2008-09-15       Impact factor: 2.802

5.  Germline mosaicism in Cornelia de Lange syndrome.

Authors:  Thomas P Slavin; Noam Lazebnik; Dinah M Clark; Jaime Vengoechea; Leslie Cohen; Maninder Kaur; Laura Konczal; Carol A Crowe; Jane E Corteville; Malgorzata J Nowaczyk; Janice L Byrne; Laird G Jackson; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2012-05-11       Impact factor: 2.802

6.  Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.

Authors:  S J Patil; M Banerjee; S R Phadke; B Mittal
Journal:  Indian J Pediatr       Date:  2009-03-28       Impact factor: 1.967

7.  De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report.

Authors:  Anthony Osita Igwegbe; George Uchenna Eleje; Ikechukwu Francis Ugwueke
Journal:  J Med Case Rep       Date:  2012-08-30

8.  Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders.

Authors:  Andrew O M Wilkie; Anne Goriely
Journal:  Prenat Diagn       Date:  2017-08-01       Impact factor: 3.050

9.  Study of environmental and genetic factors in children with craniosynostosis: A case-control study.

Authors:  Mayadhar Barik; Minu Bajpai; Rashmi Ranjan Das; Shasanka Shekhar Panda
Journal:  J Pediatr Neurosci       Date:  2013-05
  9 in total

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