Ontology highlight
ABSTRACT:
SUBMITTER: Fujiki K
PROVIDER: S-EPMC4867559 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Fujiki Katsunori K Shirahige Katsuhiko K Kaur Maninder M Deardorff Matthew A MA Conlin Laura K LK Krantz Ian D ID Izumi Kosuke K
Molecular genetics & genomic medicine 20160120 3
<h4>Background</h4>Pallister-Killian syndrome (PKS) is a prototypic mosaic aneuploidy syndrome caused by mosaic supernumerary marker isochromosome 12p. Cells possessing the isochromosome 12p rapidly diminish after birth in the peripheral blood, often necessitating a skin biopsy for diagnosis. Therefore, a genomic testing that is capable of detecting low percent mosaic isochromosome 12p is preferred for the diagnosis of PKS.<h4>Methods</h4>The utility of the droplet digital PCR system in quantify ...[more]