Laboratory guideline for turner syndrome

Daynna J. Wolff, Daniel L. Van Dyke, Cynthia M. Powell

Research output: Contribution to journalShort surveypeer-review

89 Scopus citations


ABSTRACT: Turner syndrome is a disorder that has distinct clinical features and has karyotypic aberrations with loss of critical regions of the X chromosome. Several clinical guidelines on the diagnosis and management of patients with Turner syndrome have been published, but there is relatively little on the laboratory aspects associated with this disorder. This disease-specific laboratory guideline provides laboratory guidance for the diagnosis/study of patients with Turner syndrome and its variants. Because the diagnosis of Turner syndrome involves both a clinical and laboratory component, both sets of guidelines are required for the provision of optimal care for patients with Turner syndrome.

Original languageEnglish (US)
Pages (from-to)52-55
Number of pages4
JournalGenetics in Medicine
Issue number1
StatePublished - Jan 2010


  • Cytogenetics
  • Guideline
  • Mosaicism
  • Turner syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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