Journal
GENETICS IN MEDICINE
Volume 12, Issue 1, Pages 52-55Publisher
NATURE PUBLISHING GROUP
DOI: 10.1097/GIM.0b013e3181c684b2
Keywords
Turner syndrome; guideline; cytogenetics; mosaicism
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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. Genet Med 2010:12(1):52-55.
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