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.
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Connor et al. (1981) studied this question.
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