Dyskeratosis congenita. Report of a large kindred |
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Authors: | JM CONNOR RH TEAGUE |
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Institution: | Department of Medicine, University of Liverpool, P.O. Box 147, Liverpool L69 3BX |
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Abstract: | 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. |
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