Penetrance estimate of the fra(X) gene using Pointer versus direct estimate.
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.
de Haan
A F
AF
Department of Medical Statistics, University Hospital, Nijmegen, The Netherlands.
Smits
A P
AP
Smeets
D F
DF
van Oost
B A
BA
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