Chapter

Complex Rearrangements

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/9780195375336.003.0012

Series: Oxford Monographs on Medical Genetics

Complex Rearrangements

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COMPLEX CHROMOSOMAL REARRANGEMENTS (CCRs) occurring in phenotypically normal persons are rare. Familial cases comprise a minority, with only about 35 examples recorded by the early 2000s (Berend et al., 2002b). Three or more chromosomes are involved, and a considerable variety of rearrangements are possible. Translocation may involve distal segments, as in the usual reciprocal translocation, or interstitial segments, as in the insertion. An inversion and a translocation, for example, may coexist on the same chromosome.

Chapter.  4406 words.  Illustrated.

Subjects: Clinical Genetics

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