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Related Experiment Videos

Turner's syndrome.

M B Ranke1, P Saenger

  • 1Paediatric Endocrinology Section, University Children's Hospital, D-72076, Tuebingen, Germany. mlranke@med.uni-tuebingen.de

Lancet (London, England)
|August 11, 2001
PubMed
Summary
This summary is machine-generated.

Turner

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Area of Science:

  • Genetics and Endocrinology
  • Pediatric Endocrinology

Background:

  • Historically, Turner's syndrome diagnosis relied on clinical features like short stature and gonadal dysgenesis.
  • Modern understanding defines it by X chromosome absence and potential mosaicism.

Purpose of the Study:

  • To define Turner's syndrome (Ullrich-Turner syndrome) based on current diagnostic criteria.
  • To highlight the evolution of understanding and management of Turner's syndrome.

Main Methods:

  • Review of historical diagnostic criteria.
  • Integration of chromosomal analysis findings.
  • Description of current understanding of Ullrich-Turner syndrome.

Main Results:

  • Turner's syndrome is characterized by specific physical features and partial or complete absence of an X chromosome.
  • Cell-line mosaicism is a frequent accompanying feature.
  • Conclusions:

    • Advances in research have improved the understanding of Turner's syndrome.
    • Multidisciplinary care is now integral for patients with Turner's syndrome, supporting lifelong well-being.