Abstract
Pallister-Killian syndrome (PKS) is a sporadic genetic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, hypotonia, developmental delay, intellectual disability, and other systemic abnormalities. PKS is caused by mosaicism for an extra isochromosome 12p. In this chapter, we present two cases of PKS to illustrate and discuss the low frequency of this extra isochromosome 12p in phytohemagglutinin (PHA)-stimulated peripheral blood lymphocytes and the advantage of chromosome microarray using a direct DNA prep from the uncultured blood without PHA. We suggest chromosome microarray analysis be used as first-tier testing when PKS is considered as a differential diagnosis. We also emphasize the importance of genetic testing being performed as early as possible for the individual with PKS since the percentage of cells containing the extra isochromosome 12p also decreases with age.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: Cases in Laboratory Genetics and Genomics (LGG) Practice
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
