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X Chromosome Rearrangements

  • Chapter
Genomic Disorders

Abstract

X chromosome rearrangements usually convey clinical manifestations in the hemizygous males and are, thus, readily ascertained. They are found in all parts of the X chromosome and are associated with more than 20 disorders. Some of the rearrangements are the results of homologous recombination between low-copy repeats (LCRs) on the X chromosome or between large homologous regions on the X and Y chromosome, whereas others are caused by nonhomologous end-joining (NHEJ). For most large deletions associated with contiguous gene syndromes, the deletion breakpoints remain uncharacterized. The deletions, as well as inversions and duplications on the X chromosome, occur mainly in male germ cells, indicating intrachromatid or sister chromatid exchange as the underlying mechanism.

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  1. Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan

    Pauline H. Yen PhD

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  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

    James R. Lupski MD, PhD  & Pawel Stankiewicz MD, PhD  & 

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Yen, P.H. (2006). X Chromosome Rearrangements. In: Lupski, J.R., Stankiewicz, P. (eds) Genomic Disorders. Humana Press. https://doi.org/10.1007/978-1-59745-039-3_17

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