Abstract
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. Key Words: Azoospermia; gonadal dysgenesis; Klinefelter syndrome; sex chromosome disorders; Turner syndrome; Xp duplications; Yp deletions.
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