REDUCED PHENOTYPIC EFFECT OF PARTIAL TRISOMY-1Q IN A X-1 TRANSLOCATION

  • 1 January 1977
    • journal article
    • research article
    • Vol. 20  (3) , 191-194
Abstract
A girl with psychomotor retardation and minor physical abnormalities, had an unbalanced X/1 translocation resulting in a partial trisomy 1q and partial monosomy for Xp. The 4 cases of partial trisomy for the distal segment of 1q showed a much more severely affected phenotype. In the present case the translocated X/1 chromosome is preferentially late replicating and there is spreading of late replication to the translocated 1q segment only in a minor proportion of the cells. The possibility of an exact correspondence between spreading of genetic inactivation and cytological spreading of late replication is discussed.

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