[Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)]. / Association, chez le même sujet, d'une deletion du bras court du chromosome 4 (4p-) et d'un deficit complet en parahydroxyphenylpyruvate oxydase hépatique (tyrosinose).

ABSTRACT

The authors report the association in a child of monosomy 4p- and tyrosinosis. They discuss the localization of the para-hydroxyphenylpyruvate oxidase locus on the short arm of chromosome 4. They suggest the study of para-hydroxyphenylpyruvate oxidase activity in each child with monosomy 4p-.