A newborn with an X/A translocation (46,X,der X,t(X;17)(17pter→17p13::Xp22→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.
|Original language||English (US)|
|Number of pages||9|
|Journal||American Journal of Human Genetics|
|State||Published - Jan 1 1980|
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