{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:05:42Z","timestamp":1762160742247,"version":"build-2065373602"},"reference-count":12,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,6]]},"abstract":"<jats:p>A family study is presented in which the father of a girl with severe cystic fibrosis (CF) was also found to have CF but was mildly affected. He was diagnosed with three positive sweat tests including one after suppression with fludrocortisone. Genetic analysis showed that he is a compound heterozygote with the delta F508 CF mutation associated with haplotype B and a second CF mutation associated with haplotype C. In this unusual, fertile CF male, the late age of diagnosis (30 years) and the mild clinical picture suggest that the compound genotype (delta F508\/other CF mutation) determines a much less severe form of the disease which might have gone unnoticed in the absence of a severely affected child. The implications of these findings for genetic counselling of families with CF are discussed.<\/jats:p>","DOI":"10.1136\/jmg.28.6.420","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"420-421","source":"Crossref","is-referenced-by-count":16,"title":["A fertile male with cystic fibrosis: molecular genetic analysis."],"prefix":"10.1136","volume":"28","author":[{"given":"C","family":"Barreto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L M","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Duarte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Lavinha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Ramsay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1378\/chest.81.4.422","article-title":"Sexual function in cystic fibrosis","volume":"81","author":"Levine, S.B.; Stem, R.C.","year":"1982","unstructured":"Levine SB, Stem RC. 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Cystic fibrosis among the Portuguese: genetic heterogeneity or founder effect? joint Meeting of the Portuguese and Spanish Genetics Societies, Evora, 1989."},{"key":"ref_10","first-page":"238","article-title":"Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at l-in-4 risk","volume":"32","author":"Feldman, G.L.; Lewiston, S.D.; Fernbach, W.E.","year":"1989","unstructured":"Feldman GL, Lewiston SD, Fernbach WE, et al. Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at l-in-4 risk. Am J Med Genet 1989;32:238-41.","journal-title":"Am J Med Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1007\/BF02428279","article-title":"Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology","volume":"85","author":"Duarte, A.; Barreto, C.; Marques-Pinto, L.","year":"1990","unstructured":"Duarte A, Barreto C, Marques-Pinto L, et al. Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology. Hum Genet 1990;85:404-5.","journal-title":"Hum Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/BF00286713","article-title":"Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations","volume":"83","author":"Estivill, X.; Gasparini, P.; Novelli, G.","year":"1989","unstructured":"Estivill X, Gasparini P, Novelli G, et al. Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations. 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