| Title : Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X\;21) - Couturier_1979_Hum.Genet_49_319 |
| Author(s) : Couturier J , Dutrillaux B , Garber P , Raoul O , Croquette MF , Fourlinnie JC , Maillard E |
| Ref : Hum Genet , 49 :319 , 1979 |
|
Abstract :
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 chromsome 21. |
| PubMedSearch : Couturier_1979_Hum.Genet_49_319 |
| PubMedID: 157971 |
Couturier J, Dutrillaux B, Garber P, Raoul O, Croquette MF, Fourlinnie JC, Maillard E (1979)
Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X\;21)
Hum Genet
49 :319
Couturier J, Dutrillaux B, Garber P, Raoul O, Croquette MF, Fourlinnie JC, Maillard E (1979)
Hum Genet
49 :319