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  • An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes.

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Research Article
An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes.
  1. C Cooper,
  2. J A Crolla,
  3. C Laister,
  4. D I Johnston,
  5. P Cooke
  1. Department of Cytogenetics, City Hospital, Nottingham.

    Abstract

    We have studied three patients with features of Turner's syndrome, two with a 45,X/46,X,r(?) and the third with a 45,X/46,X,dic?(Y) karyotype. Because Turner's syndrome patients with a mosaic karyotype containing a Y chromosome are known to have a high risk of developing gonadal tumours, we used DNA analysis and in situ hybridisation with X and Y specific probes to identify the chromosomal origin of the rings and dicentric chromosomes in the three index patients. Both ring chromosomes were shown to be of X origin, while the dicentric was composed of Y chromosome material. We discuss the importance of using a combination of molecular and cytogenetic analyses in such cases.

    http://dx.doi.org/10.1136/jmg.28.1.6

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