title: Penetrance estimate of the fra(X) gene using Pointer versus direct estimate.
abstract: Direct estimate of the penetrance of the fra(X) gene was compared with the estimate using the Pointer computer program. Direct estimate gave overall penetrances of 85% for male and 64% for female carriers. The estimates calculated by the Pointer program were 82% for males and 38% for females. It is argued that the use of the Pointer program gives incorrect estimates of the penetrance of the fra(X) gene.
authors.affiliation: Department of Medical Statistics, University Hospital, Nijmegen, The Netherlands.
authors.forename: A F
authors.initials: AF
authors.lastname: de Haan
authors.forename: A P
authors.initials: AP
authors.lastname: Smits
authors.forename: D F
authors.initials: DF
authors.lastname: Smeets
authors.forename: B A
authors.initials: BA
authors.lastname: van Oost
mesh_terms: D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics* / Q000523:psychology; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007360:Intelligence; D008297:Male; D010641:Phenotype; D012984:Software