title: Prenatal diagnosis of fragile X syndrome: results from parallel molecular and cytogenetic studies.
abstract: Since 1985, we have provided coordinated DNA-based and cytogenetic prenatal analysis for couples at risk for offspring afflicted with the fragile X [fra(X)] syndrome. To date, 40 pregnancies have been studied (22 males, 18 females). There were 5 males and 3 females identified to be at high risk by DNA but only 2 males and one female were demonstrated to be cytogenetically expressing the fra(X) prenatally. Of the other 3 males, one was a cytogenetic false negative (i.e. confirmed fra(X)+ at termination of pregnancy). The other 2 remain fra(X)- and are developing normally (undetected recombinants or non-penetrant male carriers). All fetuses at low risk were carried to term and are reported to be normal.
authors.affiliation: Laboratory of Human Genetics, New York State Department of Health, Albany 12201-0509.
authors.forename: P D
authors.initials: PD
authors.lastname: Murphy
authors.forename: P L
authors.initials: PL
authors.lastname: Wilmot
authors.forename: L R
authors.initials: LR
authors.lastname: Shapiro
mesh_terms: D003582:Cytogenetics / Q000706:statistics & numerical data; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D003951:Diagnostic Errors; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D015870:Gene Expression; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data; D012680:Sensitivity and Specificity
chemical_list: D015342:DNA Probes; D004247:DNA