title: Missed prenatal diagnosis of fragile-X syndrome.
abstract: An account is given of a pregnancy in an obligatory carrier of the fragile-X syndrome, in whom examination of chorionic villus cells and fetal blood cells showed the presence of a male fetus who lacked the fragile-X chromosome. However, at 3 months of age he had 14 per cent of fragile-X cells in his blood. Reasons are suggested for this error in diagnosis. The empirical risk for an error of this sort is 3 per cent.
authors.affiliation: Department of Clinical Genetics, Maternity Hospital, Edgbaston, Birmingham, U.K.
authors.forename: T P
authors.initials: TP
authors.lastname: Webb
authors.forename: S
authors.initials: S
authors.lastname: Bundey
authors.forename: M
authors.initials: M
authors.lastname: McKinley
mesh_terms: D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D005188:False Negative Reactions; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis*; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*