Limitations of Metachromasia as a Diagnostic Aid in Pediatrics

Abstract

ETACHROMATIC staining of cultured skin fibroblasts has been suggested as a means of identifying both heterozygous carriers and affected persons with various genetically determined diseases. Metachromasia was first described as a specific expression of the gene for various mucopolysaccharidoses,1 , 2 later for cystic fibrosis of the pancreas,3 and subsequently for several other rare, inherited disorders.4 5 6 7 8 Becently, Danes and Bearn7 have emphasized their opinion that "cellular metachromasia is primarily a screening procedure which should be followed by additional morphological and chemical studies."7 We have studied the technic of staining skin fibroblast cells for metachromasia in the cytogenetic laboratories of two children's hospitals . . .