Summary
A familial translocation t(X;21)(q2700;q11) is studied. A girl, trisomic for almost all the chromosome 21, has a mildly abnormal phenotype. A second girl, phenotypically abnormal, is monosomic for the juxtacentromeric region of chromosome 21 only. A comparison of the replication pattern and of the activity of superoxide dismutase (gene located on chromosome 21) shows a clear correlation between late replication, gene inactivation and phenotype expression of chromosome 21.
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This work has been supported by CNRS (ERA 47)
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Couturier, J., Dutrillaux, B., Garber, P. et al. Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21). Hum Genet 49, 319–326 (1979). https://doi.org/10.1007/BF00569351
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DOI: https://doi.org/10.1007/BF00569351