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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1980 Mar;32(2):179–187.

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

C G Palmer, T W Hubbard, G W Henry, D D Weaver
PMCID: PMC1686009  PMID: 7386454

Abstract

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.

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Selected References

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