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CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy
Author(s) -
Dawson AJ,
Chernos J,
McGowanJordan J,
Lavoie J,
Shetty S,
Steinraths M,
Wang JC,
Xu J
Publication year - 2011
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2010.01547.x
Subject(s) - uniparental disomy , genetic testing , prenatal diagnosis , guideline , medicine , diagnostic test , genetic counseling , medical genetics , genetics , family medicine , pediatrics , biology , pregnancy , chromosome , karyotype , pathology , fetus , gene
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).