Genotype prediction in the fragile X syndrome.

@article{Hirst1991GenotypePI,
  title={Genotype prediction in the fragile X syndrome.},
  author={Mark Hirst and Yutaka Nakahori and Samantha J. L. Knight and Charles Schwartz and Stephen N. Thibodeau and Andrew Roche and Tracey J Flint and J. Michael Connor and J. P. Fryns and K. E. Davies},
  journal={Journal of medical genetics},
  year={1991},
  volume={28 12},
  pages={824-9}
}
Fragile X positive, mentally retarded males have been shown to have an insertion or amplification of DNA sequences at, or close to, the site of expression of the fragile site. We show here the application of the detection of such changes to the diagnosis of affected males and female carriers and the identification of normal transmitting males. One fragile X negative male with the clinical features of the Martin-Bell syndrome also possesses an inserted/amplified DNA sequence. The implications of… CONTINUE READING

From This Paper

Figures, tables, and topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 13 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 15 references

Identification of a gene ( FMR - 1 ) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

  • I Oberle, F Rousseau, D Heitz
  • Cell
  • 1991

Physical mapping of new probes near the fragile X ( FRAXA ) with a panel of cell lines

  • RI Richards, Y Shen, K Holman
  • Am Hum Genet
  • 1990

Similar Papers

Loading similar papers…