The state of Turner syndrome science: Are we on the threshold of discovery?

Paul Kruszka, Michael Silberbach

Research output: Contribution to journalEditorialpeer-review

8 Scopus citations


Turner syndrome (TS), a genetic condition affecting roughly 1 in 2,000 females, is caused by a complete or partial loss of the second sex chromosome. This special issue of the American Journal of Medical Genetics Part C is a collection of research and clinical care reviews in TS from an international group of physician and scientist leaders who attended the 2018 “Turner Network Resource Symposium: Turner Science in the 21st Century”, held in Arlington Virginia, July 15th-17th, 2018. Both this special issue and the 2018 Symposium are fueled by two rationales. First, inadequate attention has been given to health and psychosocial problems in girls and women with TS; and second, that an understanding of TS might shed light on the role of sex chromosome dosage in common conditions such as heart disease and autoimmune disease. These seminars interweave multiple themes: the fundamental partnership between participants with rare diseases and researchers, new knowledge regarding clinical care in TS, and an understanding of the “molecular phenotype” of TS-associated conditions.

Original languageEnglish (US)
Pages (from-to)4-6
Number of pages3
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number1
StatePublished - Mar 2019


  • Turner syndrome
  • patient registries
  • sex chromosomes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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