{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:48:00Z","timestamp":1760730480966,"version":"build-2065373602"},"reference-count":23,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1973,3]]},"abstract":"<jats:p>Pooled data of 35 pedigrees for Alport's syndrome were analysed. Affected to normal ratios among the offspring of heterozgyous fathers and mothers were tabulated. Offspring of heterozygous mothers were tabulated separately where the mother showed symptoms of the disease and where she was asymptomatic. Three current theories on the inheritance of Alport's syndrome are considered and discussed. Each theory fails to account fully for the known facts. A non-chromosomal agent has not yet been excluded for this intriguing disease.<\/jats:p>","DOI":"10.1136\/jmg.10.1.23","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"23-26","source":"Crossref","is-referenced-by-count":10,"title":["Segregation Ratios in Alport's Syndrome"],"prefix":"10.1136","volume":"10","author":[{"given":"Elizabeth","family":"MacNeill","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard F.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1973,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1136\/bmj.1.3454.504","article-title":"Hereditary familial congenital haemorrhagic nephritis","volume":"1","author":"Alport, A.C.","year":"1927","unstructured":"Alport, A. C. (1927). Hereditary familial congenital haemorrhagic nephritis. British Medical_Journal, 1, 504-506.","journal-title":"British Medical_Journal"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1203\/00006450-196911000-00004","article-title":"Hereditary nephritis: early clinical, functional, and morphological studies","volume":"3","author":"Antonovych, T.T.; Dasy, P.F.; Tina, L.U.; D'Albora, J.B.; Hollernam, C.E.; Calcagno, P.L.","year":"1969","unstructured":"Antonovych, T. T., Dasy, P. F., Tina, L. U., D'Albora, J. B., Hollernam, C. E., and Calcagno, P. L. (1969). Hereditary nephritis: early clinical, functional, and morphological studies. Pediatric Research, 3, 545-556.","journal-title":"Pediatric Research"},{"key":"ref_3","first-page":"967979","article-title":"Hereditary renal dysfunction and deafness","volume":"35","author":"Cassady, G.; Brown, K.; Cohen, M.; DeMaria, W.","year":"1965","unstructured":"Cassady, G., Brown, K., Cohen, M., and DeMaria, W. (1965). Hereditary renal dysfunction and deafness. Pediatrics, 35, 967979.","journal-title":"Pediatrics"},{"key":"ref_4","first-page":"401","article-title":"Hereditary nephritis","volume":"99","author":"Chappell, J.A.; Kelsey, W.M.","year":"1960","unstructured":"Chappell, J. A. and Kelsey, W. M. (1960). Hereditary nephritis. American Journal of Diseases of Children, 99, 401-407.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_5","first-page":"13","article-title":"A genetic study of hereditary renal dysfunction with associated nerve deafness","author":"Cohen, M.M.; Cassady, G.; Hanna, B.L.","year":"1961","unstructured":"Cohen, M. M., Cassady, G., and Hanna, B. L. (1961). A genetic study of hereditary renal dysfunction with associated nerve deafness. American_Journal of Human Genetics, 13,379-389.","journal-title":"American_Journal of Human Genetics"},{"key":"ref_6","article-title":"Diseases of the Kidney and Urinary Derangements, part 2. Longmans","author":"Dickinson, W.H.","year":"1877","unstructured":"Dickinson, W. H. (1877). Diseases of the Kidney and Urinary Derangements, part 2. Longmans Green, London."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/j.1469-1809.1936.tb02127.x","article-title":"A search for incomplete sex-linkage in man","volume":"7","author":"Haldane, J.B.S.","year":"1936","unstructured":"Haldane, J. B. S. (1936). A search for incomplete sex-linkage in man. Annals of Eugenics, 7, 28-57.","journal-title":"Annals of Eugenics"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1001\/archotol.1965.00760010168016","article-title":"Hereditary nephropathy and loss of hearing","volume":"82","author":"Johnson, W.J.; Hagan, P.J.","year":"1965","unstructured":"Johnson, W. J. and Hagan, P. J. (1965). Hereditary nephropathy and loss of hearing. Archives of Otolaryngology, 82, 166-172.","journal-title":"Archives of Otolaryngology"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/S0022-3476(66)80321-9","article-title":"Familial and nonfamilial benign hematuria","volume":"69","author":"McConville, J.M.; McAdams, A.J.","year":"1966","unstructured":"McConville, J. M. and McAdams, A. J. (1966). Familial and nonfamilial benign hematuria. Journal of Pediatrics, 69, 207-214.","journal-title":"Journal of Pediatrics"},{"key":"ref_10","first-page":"55","article-title":"Further scoring types in sequential linkage tests, with a critical review of autosomal and partial sex linkage in man","volume":"9","author":"Morton, N.E.","year":"1957","unstructured":"Morton, N. E. (1957). Further scoring types in sequential linkage tests, with a critical review of autosomal and partial sex linkage in man. American Journal of Human Genetics, 9, 55-75.","journal-title":"American Journal of Human Genetics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/0002-9343(63)90237-7","article-title":"Hereditary nephritis","volume":"35","author":"Mulrow, P.J.; Aron, A.M.; Gathmam, G.E.; Yesner, R.; Lubs, H.A.","year":"1963","unstructured":"Mulrow, P. J., Aron, A. M., Gathmam, G. E., Yesner, R., and Lubs, H. A. (1963). Hereditary nephritis. American Journal of Medicine, 35, 737-748.","journal-title":"American Journal of Medicine"},{"key":"ref_12","article-title":"Genetic aspects of hereditary renal disease","volume-title":"Hereditary, Development and Immunological Aspects of Kidney Disease","volume":"13","author":"Opitz, J.","year":"1962","unstructured":"Opitz, J. (1962). Genetic aspects of hereditary renal disease. In Hereditary, Development and Immunological Aspects of Kidney Disease, edited by J. Metcoff. Annual Conference on the Kidney, No. 13. North-Western University Press, Princeton."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1177\/000348947007900119","article-title":"Chronic hereditary nephritis with nerve deafness; A Nebraska kindred","volume":"79","author":"Patton, R.B.","year":"1970","unstructured":"Patton, R. B. (1970). Chronic hereditary nephritis with nerve deafness; A Nebraska kindred. Annals of Otology, Rhinology and Laryngology, 79, 194-202.","journal-title":"Annals of Otology, Rhinology and Laryngology"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1001\/archinte.1958.00260220049005","article-title":"A follow-up study of hereditary chronic nephritis","volume":"102","author":"Perkoff, G.T.; Nugent, Jr., C.A.; Dolowitz, D.A.; Stephens, F.E.; Carnes, W.H.; Tyler, F.H.","year":"1958","unstructured":"Perkoff, G. T., Nugent, C. A., Jr., Dolowitz, D. A., Stephens, F. E., Carnes, W. H., and Tyler, F. H. (1958). A follow-up study of hereditary chronic nephritis. Archives of Internal Medicine, 102, 733-746.","journal-title":"Archives of Internal Medicine"},{"key":"ref_15","first-page":"331337","article-title":"Genetics of hereditary nephropathy with deafness (Alport's disease)","volume":"2","author":"Preus, M.; Fraser, F.C.","year":"1971","unstructured":"Preus, M. and Fraser, F. C. (1971). Genetics of hereditary nephropathy with deafness (Alport's disease). Clinical Genetics, 2, 331337.","journal-title":"Clinical Genetics"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1056\/NEJM195409022511003","article-title":"Congenital hereditary hematuria","volume":"251","author":"Reyersbach, G.C.; Butler, A.M.","year":"1954","unstructured":"Reyersbach, G. C. and Butler, A. M. (1954). Congenital hereditary hematuria. New England Journal of Medicine, 251, 377-380.","journal-title":"New England Journal of Medicine"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1542\/peds.38.5.808","article-title":"Familial hematuric nephritis","volume":"38","author":"Rome, L.; Cuppage, F.E.; Vertes, V.","year":"1966","unstructured":"Rome, L., Cuppage, F. E., and Vertes, V. (1966). Familial hematuric nephritis. Pediatrics, 38, 808-818.","journal-title":"Pediatrics"},{"key":"ref_18","first-page":"18","article-title":"Sex-linkage and the sex chromosomes in man","author":"Sachs, L.","year":"1953","unstructured":"Sachs, L. (1953\/1954). Sex-linkage and the sex chromosomes in man. Annals of Eugenics, 18,255-261.","journal-title":"Annals of Eugenics"},{"key":"ref_19","first-page":"2644","article-title":"Congenital hereditary nephritis with nerve deafness","volume":"63","author":"Schneider, R.G.","year":"1963","unstructured":"Schneider, R. G. (1963). Congenital hereditary nephritis with nerve deafness. New York State Journal of Medicine, 63, 2644-2648.","journal-title":"New York State Journal of Medicine"},{"key":"ref_20","first-page":"89","article-title":"Abnormal segregation in hereditary renal disease with deafness","volume":"13","author":"Shaw, R.F.; Glover, R.A.","year":"1961","unstructured":"Shaw, R. F. and Glover, R. A. (1961). Abnormal segregation in hereditary renal disease with deafness. American J3ournal of Human Genetics, 13, 89-97.","journal-title":"Human Genetics"},{"key":"ref_21","series-title":"Proceedings of the Staff Meetings of the Mayo Clinic","first-page":"33","article-title":"Syndrome of hereditary hematuria, nephropathy and deafness","author":"Sturtz, G.S.; Burke, E.C.","year":"1958","unstructured":"Sturtz, G. S. and Burke, E. C. (1958). Syndrome of hereditary hematuria, nephropathy and deafness. Proceedings of the Staff Meetings of the Mayo Clinic, 33,289-297."},{"key":"ref_22","first-page":"65","article-title":"Diagnostic value of serum complement determination in hereditary glomerulonephritis","author":"Wasserman, E.; Schwarz, F.; Wachstein, M.; Lange, L.","year":"1965","unstructured":"Wasserman, E., Schwarz, F., Wachstein, M., and Lange, L. (1965). Diagnostic value of serum complement determination in hereditary glomerulonephritis. J'ournal of Laboratory and Clinical Medicine, 65,589-599.","journal-title":"J'ournal of Laboratory and Clinical Medicine"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0002-9343(61)90107-3","article-title":"Hereditary nephropathy, deafness and renal foam cells","volume":"31","author":"Whalen, R.E.; Huang, S.; Peschel, E.; McIntosh, H.D.","year":"1961","unstructured":"Whalen, R. E., Huang, S., Peschel, E., and McIntosh, H. D. (1961). Hereditary nephropathy, deafness and renal foam cells. American Journal of Medicine, 31, 171-186.","journal-title":"American Journal of Medicine"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.1.23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:22:42Z","timestamp":1760728962000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.1.23"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,3]]},"references-count":23,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1973,3,1]]},"published-print":{"date-parts":[[1973,3]]}},"alternative-id":["10.1136\/jmg.10.1.23"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.1.23","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1973,3]]}}}