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Failure of X inactivation in the autosomal segment of an X/A translocation.

A newborn with an X/A translocation (46,X,der X,t(X;17)(17pter leads to 17p13::Xp22 leads to Xqter) demonstrated multiple anomalies. X-replication studies in leukocytes of the patient with RBG (R Bands by BrdU using Giemsa stain) showed the abnormal X,t(X;17), to be late replicating except for the translocated segment. Clinical findings and replication studies suggest failure of inactivation of the translocated segment.