Dyskeratosis congenita. Report of a large kindred

This kindred includes six males with dyskeratosis congenita. It is the largest British pedigree so far reported and brings the total number of reported cases to fifty-nine. Our pedigree supports X-linked recessive inheritance and close linkage with the Xg² locus was excluded. Three previously unreported complications are noted; Hodgkin's disease, adenocarcinoma of the pancreas and deafness. Normal chromosomal stability was found in three patients and immunological studies precluded an early universal defect in cell-mediated immunity.