An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.

Daria Grafodatskaya Sanaa Choufani Raveen Basran Rosanna Weksberg

J Pediatr Genet

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

Published: March 2017

Imprinted genes are expressed in a parent of origin manner. Dysregulation of imprinted genes expression causes various disorders associated with abnormalities of growth, neurodevelopment, and metabolism. Molecular mechanisms leading to imprinting disorders and strategies for their diagnosis are discussed in this review article.

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288000	PMC
http://dx.doi.org/10.1055/s-0036-1593840	DOI Listing

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