Deletion of the Long Arm of Chromosome 16 and an Unexpected Duffy Blood Group Phenotype reveal a Possible Autosomal Linkage

Abstract

CHROMOSOME deletions are ideal material for identifying gene loci, by the correlation of the absence of part of a chromosome with a particular phenotype. We have recently studied a child who demonstrates this cytogenetic principle. A 26 month old mildly retarded Caucasian female was found to be heterozygous for a deletion of the long arm of chromosome 16. Analysis of autosomal marker systems in the propositus and her family suggests that the location of the genes determining the Duffy blood system might be on the chromosome 16.