Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.

ABSTRACT:

Background

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.

Methods

The utility of the droplet digital PCR system in quantifying the mosaic ratio of isochromosome 12p in PKS was evaluated.

Results

Droplet digital PCR was able to precisely quantify isochromosome 12p mosaic ratio, and copy number measured by droplet digital PCR was correlated well with that of fluorescence in situ hybridization analysis.

Conclusio

SUBMITTER: Fujiki K 

PROVIDER: S-EPMC4867559 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature