Chapter

Sex Chromosome Translocations

R. J. McKinlay Gardner, Grant R. Sutherland and Lisa G. Shaffer

in Chromosome Abnormalities and Genetic Counseling

Fourth edition

Published on behalf of Oxford University Press

Published in print November 2011 | ISBN: 9780195375336
Published online October 2012 | e-ISBN: 9780199975174 | DOI: http://dx.doi.org/10.1093/med/9780195375336.003.0006

Series: Oxford Monographs on Medical Genetics

Sex Chromosome Translocations

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THE SEX CHROMOSOMES (gonosomes) are different, and sex chromosome translocations need to be considered separately from translocations between autosomes. A sex chromosome can engage in translocation with an autosome, with the other sex chromosome, or even with its homolog. The unique qualities of the sex chromosomes have unique implications in terms of the genetic functioning of gonosome-autosome translocations. Unlike any other chromosome, the X chromosome is capable of undergoing “transcriptional silencing” or, as more usually spoken, facultative inactivation, of almost its entire genetic content. This fact has crucial consequences for those who carry an X-autosome translocation, in both the balanced and the unbalanced states. And unlike any other chromosome, the Y is composed of chromatin which is, in large part, permanently inert. Some translocations of this inert material can thus be of no clinical significance.

Chapter.  14015 words.  Illustrated.

Subjects: Clinical Genetics

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