Sex chromosome disorders

Andrew R. Zinn

doi:10.1007/978-1-59259-963-9_42

Sex chromosome disorders

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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.

Original language	English (US)
Title of host publication	Principles of Molecular Medicine
Publisher	Humana Press
Pages	446-452
Number of pages	7
ISBN (Print)	9781588292025
DOIs	https://doi.org/10.1007/978-1-59259-963-9_42
State	Published - Dec 1 2006

Keywords

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

ASJC Scopus subject areas

Medicine(all)

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10.1007/978-1-59259-963-9_42

Cite this

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AB - 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.

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KW - Klinefelter syndrome

KW - Turner syndrome

KW - Xp duplications

KW - Yp deletions

KW - gonadal dysgenesis

KW - sex chromosome disorders

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ER -

Sex chromosome disorders

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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