Advances in the diagnosis of human genetic disorders. pp. 297-317.

The purpose of this communication is to discuss how the application of 
one methodology - the study of the cultured human cell - 
has added insight into understanding the genetic reasons for such disparate 
clinical phenotypes. A mutant genotype not recognizable and/or understandable in vivo 
can often be recognized in vitro by studying the metabolism and 
morphological characteristics of the cultured cell. Two syndromes will be used 
as illustrations of this principle - the genetic mucopolysaccharidoses and cystic 
fibrosis. The patients described were selected to demonstrate how the use 
of cell culture adds insight into the diagnosis of human genetic 
disorders. The study of the cultured human cell has and will 
aid in advancing our ability to diagnose human genetic disorders. 