Chromosomal Disorders of Sex Development

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:

Series: Oxford Monographs on Medical Genetics

Chromosomal Disorders of Sex Development

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THE IDEA of a female with XY chromosomes and a male with XX chromosomes may seem a contradiction in terms. Yet to those who have studied the mechanisms of sex development, perhaps what is more remarkable is that most of the time there is a clear association between being XX and female, and being XY and male. The XX and XY embryo are built on a fundamentally similar outline plan, and only as development proceeds do certain modifications evolve. If at any point in this sequential process some genetic instruction is faulty, inappropriate, or cannot be acted on, the direction of sexual development may proceed imperfectly. In the extreme, the opposite path is taken. This latter state is the particular subject of this chapter, with more of a focus upon those forms in which classical and molecular cytogenetics comprise the key diagnostic investigations, although we do touch on some mendelian conditions. We provide categories for “girls and women,” and “boys and men,” according to the phenotypes presented, and the sex that the individual is regarded as being, by the individual or by the individual's parents.

Chapter.  4981 words. 

Subjects: Clinical Genetics

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