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 Xga 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.
D000328:Adult; D002648:Child; D006801:Humans; D007642:Keratosis / Q000235:genetics*; D008297:Male; D009260:Nail Diseases / Q000235:genetics; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D013577:Syndrome