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Case Reports
. 1979 Aug;16(4):254-62.
doi: 10.1136/jmg.16.4.254.

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

R Bernstein, B Dawson, R Kohl, T Jenkins
Case Reports

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

R Bernstein et al. J Med Genet. 1979 Aug.

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.

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References

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    1. Cytogenet Cell Genet. 1977;18(6):333-48 - PubMed
    1. Am J Hum Genet. 1972 Sep;24(5):583-97 - PubMed
    1. Am J Hum Genet. 1972 May;24(3):325-9 - PubMed
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