Sex chromosome disorders

Research output: Chapter in Book/Report/Conference proceedingChapter


Sex chromosome disorders have held a special fascination for geneticists and endocrinologists because of the intimate association between the sex chromosomes, germ cells, and sex determination. Molecular studies are beginning to yield explanations for phenotypes associated with sex chromosome abnormalities, such as sex reversal with Yp deletions or Xp duplications, azoospermia with Yq deletions, and short stature in Turner syndrome. Even with completion of the human genome sequence, sex chromosome disorders remain a fertile topic for research in molecular medicine.

Original languageEnglish (US)
Title of host publicationPrinciples of Molecular Medicine
PublisherHumana Press
Number of pages7
ISBN (Print)9781588292025
StatePublished - Dec 1 2006


  • Azoospermia
  • Klinefelter syndrome
  • Turner syndrome
  • Xp duplications
  • Yp deletions
  • gonadal dysgenesis
  • sex chromosome disorders

ASJC Scopus subject areas

  • Medicine(all)


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