Elsevier

Genetics in Medicine

Volume 12, Issue 1, January 2010, Pages 52-55
Genetics in Medicine

ACMG-Standards-and-Guidelines
Laboratory guideline for Turner syndrome

https://doi.org/10.1097/GIM.0b013e3181c684b2Get rights and content
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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.

Keywords

Turner syndrome
guideline
cytogenetics
mosaicism

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