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Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21)
Authors:J. Couturier  B. Dutrillaux  Pascale Garber  Odile Raoul  Marie-Françoise Croquette  J. C. Fourlinnie  E. Maillard
Affiliation:(1) Institut de Progénèse, 15, rue de l'Ecole de Médecine, F-75006 Paris, France
Abstract: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.This work has been supported by CNRS (ERA 47)
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