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Research Article
Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.
  1. J Tarleton,
  2. S Wong,
  3. D Heitz,
  4. C Schwartz
  1. Greenwood Genetic Center, DNA Diagnostic Laboratory, South Carolina 29646.

    Abstract

    Genetic recombination near the fragile X locus (Xq27.3) has frequently been a problem in linkage studies of families in which the fragile X is segregating. This case report illustrates the resolution of a difficult situation in a fragile X family for whom cytogenetic studies were inconclusive and where recombination had twice confounded attempts at prenatal DNA diagnosis by RFLP analysis. Using a newly developed DNA probe, StB12.3, for direct detection of DNA instability in the fragile X locus, the presence of the fragile X was ascertained definitively in a prenatal DNA sample.

    https://doi.org/10.1136/jmg.29.10.726

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