PRENATAL-DIAGNOSIS OF FRAGILE X-SYNDROME BY DIRECT DETECTION OF THE UNSTABLE DNA-SEQUENCE

FRAGILE X syndrome is the most common form of familial mental retardation.1 Its prenatal diagnosis has relied on cytogenetic detection of the fragile X chromosome in cultured amniotic fluid, chorionic-villus cells, or fetal blood obtained by cordocentesis. The rate of misdiagnosis is about 5 percent and is due to rare false positive and more frequent false negative diagnoses.2 A molecular-genetic approach using DNA polymorphisms linked to the fragile site is feasible for diagnosis, but the results are probabilistic rather than absolutely diagnostic.3,4 The fragile X syndrome has recently been shown to be characterized by an unstable DNA sequence that can. © 1991, Massachusetts Medical Society. All rights reserved.