Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

Grant R. Sutherland, Agi Gedeon, Andrew Donnelly, John C. Mulley, Eric Kremer, Michael Lynch, Melanie Pritchard, Sui yu, Robert I. Richards, Roger W. Byard, Louise Kornman

Research output: Contribution to journalArticlepeer-review

82 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1720-1722
Number of pages3
JournalNew England Journal of Medicine
Volume325
Issue number24
DOIs
Publication statusPublished - 12 Dec 1991
Externally publishedYes

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