Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence

  • Sutherland G
  • Gedeon A
  • Kornman L
  • et al.
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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, chorio...

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Sutherland, G. R., Gedeon, A., Kornman, L., Donnelly, A., Byard, R. W., Mulley, J. C., … Richards, R. I. (1991). Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence. New England Journal of Medicine, 325(24), 1720–1722. https://doi.org/10.1056/nejm199112123252407

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