Laboratory guideline for Turner syndrome.
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.
Wolff
Daynna J
DJ
Department of Pathology and Laboratory Medicine, University of South Carolina, Charleston, South Carolina 29425, USA. wolffd@musc.edu
Van Dyke
Daniel L
DL
Powell
Cynthia M
CM
D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X; D005260:Female; D005313:Fetal Death; D006801:Humans; D015994:Incidence; D007621:Karyotyping; D009006:Monosomy / Q000235:genetics; D010053:Ovary / Q000473:pathology; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D014424:Turner Syndrome / Q000175:diagnosis* / Q000196:embryology / Q000453:epidemiology / Q000235:genetics*