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  • X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.

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Research Article
X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.
  1. R Bernstein,
  2. B Dawson,
  3. R Kohl,
  4. T Jenkins

    Abstract

    Cytogenetic studies on a retarded girl showed a complex S;15 translocation, karyotype 45,X,-15,+t(X15). The translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm. Gene marker studies failed to show anomalous segregation of the hexosaminidase A gene or any other gene markers tested.

    https://doi.org/10.1136/jmg.16.4.254

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        Addendum
        BMJ Publishing Group Ltd
        Journal of Medical Genetics 1979; 16 262-262 Published Online First: 01 Aug 1979. doi: 10.1136/jmg.16.4.262