Whole genome analysis 2 (changed 28/2)
Objectives
- Compare and contrast conventional cytogenetics with newer method to detect imbalance
- Appreciate that bread range of copy number anomalities exist in health and disease
- Understand different methods to assay for deletions and duplications of different sizes in the genome
- Understand the principles and uses of chromosomal microarray
Modern way to to look for chromosomal imbalance is the chromosomal microarray
Case
nonspecific global neurodevelopment delay
Neonatal jaundice
most healthy babies get jaundice
called physiological or breast milk jaundice, lasts a few weekes bilirubin is unconjugated
east to distinguish from conjugated hyperbilirubinaemia
Alagille syndrome
biliary system inadequate and so conjugated hyperbilirubinaemia results
sequence the jag 1 and notch 2 genes look for small scale deletion and duplcations in genes look for larger deletions of duplications that encompass the jag or notch genes