CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

Dawson AJ, Chernos J, McGowan‐Jordan J, Lavoie J, Shetty S, Steinraths M, Wang J‐C, Xu J. CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy. The aim of this statement is to provide clinicians, cytogeneticists and molecular geneticists of the Canadian College of Medica...

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Bibliographic Details
Published in:Clinical genetics 2011-02, Vol.79 (2), p.118-124
Main Authors: Dawson, AJ, Chernos, J, McGowan‐Jordan, J, Lavoie, J, Shetty, S, Steinraths, M, Wang, J‐C, Xu, J
Format: Article
Language:English
Subjects:
Canada
Diagnostic tests
Female
Genetic disorders
Genetic Testing - standards
genomic imprinting
Humans
Infant, Newborn
Male
Neonatal Screening - standards
Phenotype
postnatal testing
Pregnancy
Prenatal care
Prenatal Diagnosis - standards
prenatal testing
Risk Factors
uniparental disomy
Uniparental Disomy - diagnosis
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Summary:Dawson AJ, Chernos J, McGowan‐Jordan J, Lavoie J, Shetty S, Steinraths M, Wang J‐C, Xu J. CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy. The aim of this statement is to provide clinicians, cytogeneticists and molecular geneticists of the Canadian College of Medical Geneticists (CCMG) a comprehensive review of the role of UPD in constitutional genetic diagnosis and to provide a guideline as to when investigation for UPD is recommended. Members of the CCMG Cytogenetics, Molecular Genetics, Clinical Practice, and Prenatal Diagnosis committees reviewed the relevant literature on uniparental disomy (UPD) in constitutional genetic diagnosis (May 2010). Guidelines were developed for UPD testing in Canada. The guidelines were circulated for comment to the CCMG members at large and following appropriate modification, approved by the CCMG Board of Directors (July 2010).
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2010.01547.x