Translocations Isochromosome formation Deletions Duplications These can be inherited or can arise during meiosis
Mutations in the same gene can produce different effects in different tissues
Mutations in different genes can produce the same phenotype
Same mutation can produce a different phenotype in different individuals
Different defects in different tissues due to the same gene.
Waardenburg syndrome type 2
Autosomal dominant mutation Deafness heterochromatic irises, white forelock small eyes
Altered neural crest cell migration and proliferation
ethanol treated neural crest cells prematurely initiate their differentiation into facial cartilage.
Abnormally high level of apoptosis
cb neurons in the developing forebrain, frontonasal process and cranial nerve ganglia
Important for normal development and metabolism