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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18 / Q000648:ultrastructure; D004261:DNA Replication; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014960:X Chromosome