{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:10:01Z","timestamp":1759723801993,"version":"build-2065373602"},"reference-count":43,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,2]]},"abstract":"<jats:p>Familial data on neural tube malformations in Great Britain were submitted to segregation analysis under the mixed model. Maternal and fetal factors cannot be discriminated in the absence of substantial bodies of data on spina bifida survivors who reproduce or on half-sibs. Early abortion studies would allow differential mortality in utero to be taken into account. After fitting the mixed and generalised single locus models, it is concluded that the multifactorial model can provisionally be used for calculation of recurrence risks. Pathogenic hypotheses implicating twinning seem to rest on little evidence.<\/jats:p>","DOI":"10.1136\/jmg.16.1.8","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"8-13","source":"Crossref","is-referenced-by-count":15,"title":["Neural tube malformations: complex segregation analysis and calculation of recurrence risks."],"prefix":"10.1136","volume":"16","author":[{"given":"J M","family":"Lalouel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N E","family":"Morton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1979,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1093\/oxfordjournals.bmb.a071318","article-title":"Genetics of common single malformations","volume":"32","author":"Carter, C. 0","year":"1976","unstructured":"Carter, C. 0. (1976). Genetics of common single malformations. British Medical Bulletin, 32, 21-26.","journal-title":"British Medical Bulletin"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.5.2.81","article-title":"A family study of major central nervous system malformations in South Wales","volume":"5","author":"Carter, C.O.; David, P.A.; Laurence, K.M.","year":"1968","unstructured":"Carter, C. O., David, P. A., and Laurence, K. M. (1968). A family study of major central nervous system malformations in South Wales. Journal of Medical Genetics, 5, 81-106.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1136\/jmg.10.3.209","article-title":"Spina bifida and anencephalus in Greater London","volume":"10","author":"Carter, C.O.; Evans, K.A.","year":"1973","unstructured":"Carter, C. O., and Evans, K. A. (1973a). Spina bifida and anencephalus in Greater London. Journal of Medical Genetics, 10, 209-234.","journal-title":"Journal of Medical Genetics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1016\/S0140-6736(73)92593-2","article-title":"Children of adult survivors with spina bifida cystica","volume":"2","author":"Carter, C.O.; Evans, K.A.","year":"1973","unstructured":"Carter, C. O., and Evans, K. A. (1973b). Children of adult survivors with spina bifida cystica. Lancet, 2, 924-926.","journal-title":"Lancet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1136\/jmg.13.1.9","article-title":"Congenital malformations of the central nervous system in spontaneous abortions","volume":"13","author":"Creasy, M.R.; Alberman, E.D.","year":"1976","unstructured":"Creasy, M. R., and Alberman, E. D. (1976). Congenital malformations of the central nervous system in spontaneous abortions. Journal of Medical Genetics, 13, 9-16.","journal-title":"Journal of Medical Genetics"},{"key":"ref_6","first-page":"21","article-title":"Anencephaly and spina bifida in the British Isles. In Birth Defects: Risks and Consequences","author":"Elwood, J.H.","year":"1976","unstructured":"Elwood, J. H. (1976). Anencephaly and spina bifida in the British Isles. In Birth Defects: Risks and Consequences, pp. 21-39. Ed. by S. Kelly, E. B. Hook, D. T. Janerich, and I. H. Porter. Academic Press, New York."},{"key":"ref_7","first-page":"73","article-title":"Factors associated with anencephalus and spina bifida in Belfast","volume":"27","author":"Elwood, J.H.; Nevin, N.C.","year":"1973","unstructured":"Elwood, J. H., and Nevin, N. C. (1973). Factors associated with anencephalus and spina bifida in Belfast. British Journal of Preventive and Social Medicine, 27, 73-80.","journal-title":"British Journal of Preventive and Social Medicine"},{"key":"ref_8","first-page":"3","article-title":"Ancephalus and spina bifida in North America. In Birth Defects: Risks and Consequences","author":"Elwood, J.M.","year":"1976","unstructured":"Elwood, J. M. (1976). Ancephalus and spina bifida in North America. In Birth Defects: Risks and Consequences, pp. 3-19, Ed. by S. Kelly, E. B. Hook, D. T. Janerich, and I. H. Porter. Academic Press, New York."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1111\/j.1469-1809.1970.tb00217.x","article-title":"Anencephalus: variation with maternal age, parity, social class and region in England, Scotland and Wales","volume":"34","author":"Fedrick, J.","year":"1970","unstructured":"Fedrick, J. (1970). Anencephalus: variation with maternal age, parity, social class and region in England, Scotland and Wales. Annals of Human Genetics, 34, 31-38.","journal-title":"Annals of Human Genetics"},{"key":"ref_10","article-title":"Communication to a meeting of the British Association for the Advancement of Science, Canterbury. Quoted by Leck","author":"Fedrick, J.","year":"1973","unstructured":"Fedrick, J. (1973). Communication to a meeting of the British Association for the Advancement of Science, Canterbury. Quoted by Leck (1974)."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1016\/S0140-6736(74)91185-4","article-title":"Twinning and neural-tube defects","volume":"2","author":"Field, B.; Kerr, C.","year":"1974","unstructured":"Field, B., and Kerr, C. (1974). Twinning and neural-tube defects. Lancet, 2, 964-965.","journal-title":"Lancet"},{"key":"ref_12","first-page":"115","article-title":"Statistical analysis on anencephaly, spina bifida and congenital hydrocephaly in Japan","volume":"19","author":"Imaizumi, Y.","year":"1974","unstructured":"Imaizumi, Y. (1974). Statistical analysis on anencephaly, spina bifida and congenital hydrocephaly in Japan. Japanese Journal of Human Genetics, 19, 115-135.","journal-title":"Japanese Journal of Human Genetics"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1111\/j.1469-8749.1970.tb01885.x","article-title":"Fetus-fetus interaction. A model aetiology for anencephalus","volume":"12","author":"Knox, E.G.","year":"1970","unstructured":"Knox, E. G. (1970). Fetus-fetus interaction. A model aetiology for anencephalus. Developmental Medicine and Child Neurology, 12, 167-177.","journal-title":"Developmental Medicine and Child Neurology"},{"key":"ref_14","first-page":"73","article-title":"Twins and neural tube defects","volume":"28","author":"Knox, E.G.","year":"1974","unstructured":"Knox, E. G. (1974). Twins and neural tube defects. British Journal ofPreventive and Social Medicine, 28, 73-80.","journal-title":"British Journal ofPreventive and Social Medicine"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1136\/jmg.14.6.408","article-title":"Recurrence risks in complex inheritance with special regard to pyloric stenosis","volume":"14","author":"Lalouel, J.M.; Morton, N.E.; MacLean, C.J.; Jackson, J.","year":"1977","unstructured":"Lalouel, J. M., Morton, N. E., MacLean, C. J., and Jackson, J. (1977). Recurrence risks in complex inheritance with special regard to pyloric stenosis. Journal of Medical Genetics, 14, 408-414.","journal-title":"Journal of Medical Genetics"},{"key":"ref_16","first-page":"243","article-title":"Effets des avortements spontanes sur la frequence des naissances gemellaires. Comptes Rendus Hebdomadaires des Stances de l'Academie des","volume":"282","author":"Lazar, P.","year":"1976","unstructured":"Lazar, P. (1976). Effets des avortements spontanes sur la frequence des naissances gemellaires. Comptes Rendus Hebdomadaires des Stances de l'Academie des Sciences, 282, 243-246.","journal-title":"Sciences"},{"key":"ref_17","first-page":"166","article-title":"Ethnic differences in the incidence of malformations following migration","volume":"23","author":"Leck, I.","year":"1969","unstructured":"Leck, I. (1969). Ethnic differences in the incidence of malformations following migration. British Journal ofPreventive and Social Medicine, 23, 166-173.","journal-title":"British Journal ofPreventive and Social Medicine"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/tera.1420050305","article-title":"The etiology of human malformations: insights from epidemiology","volume":"5","author":"Leck, I.","year":"1972","unstructured":"Leck, I. (1972). The etiology of human malformations: insights from epidemiology. Teratology, 5, 303-314.","journal-title":"Teratology"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1093\/oxfordjournals.bmb.a071187","article-title":"Causation of neural tube defects: clues from epidemiology","volume":"30","author":"Leck, I.","year":"1974","unstructured":"Leck, I. (1974). Causation of neural tube defects: clues from epidemiology. British Medical Bulletin, 30, 158-163.","journal-title":"British Medical Bulletin"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1136\/bmj.2.5758.357","article-title":"Malformations of central nervous system and softness of local water supplies","volume":"2","author":"Lowe, C.R.; Roberts, C.J.; Lloyd, S.","year":"1971","unstructured":"Lowe, C. R., Roberts, C. J., and Lloyd, S. (1971). Malformations of central nervous system and softness of local water supplies. British Medical Journal, 2, 357-361.","journal-title":"British Medical Journal"},{"key":"ref_21","first-page":"129","article-title":"Segregation analysis","volume-title":"Computer Applications in Genetics","author":"Morton, N.E.","year":"1969","unstructured":"Morton, N. E. (1969). Segregation analysis. In Computer Applications in Genetics, pp. 129-139. Ed. by N. E. Morton. University of Hawaii Press, Honolulu."},{"key":"ref_22","article-title":"Genetics of Interracial Crosses in Hawaii","author":"Morton, N.E.; Chung, C.S.; Mi, M.P.","year":"1967","unstructured":"Morton, N. E., Chung, C. S., and Mi, M. P. (1967). Genetics of Interracial Crosses in Hawaii. Karger, Basel."},{"key":"ref_23","first-page":"489","article-title":"Analysis of family resemblance. III. Complex segregation of quantitative traits","volume":"26","author":"Morton, N.E.; MacLean, C.J.","year":"1974","unstructured":"Morton, N. E., and MacLean, C. J. (1974). Analysis of family resemblance. III. Complex segregation of quantitative traits. American Journal of Human Genetics, 26, 489-503.","journal-title":"American Journal of Human Genetics"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1542\/peds.47.3.577","article-title":"Anencephaly and spina bifida in Israel","volume":"47","author":"Naggan, L.","year":"1971","unstructured":"Naggan, L. (1971). Anencephaly and spina bifida in Israel. Pediatrics, 47, 577-586.","journal-title":"Pediatrics"},{"key":"ref_25","first-page":"\"pp. 41","article-title":"I. Methodology of ascertainment in international comparisons. II. Anencephaly and spina bifida in Israel. In Birth Defects: Risks and Consequences","volume":"277","author":"Naggan, L.","year":"1976","unstructured":"Naggan, L. (1976). I. Methodology of ascertainment in international comparisons. II. Anencephaly and spina bifida in Israel. In Birth Defects: Risks and Consequences, pp. 41-58. Ed. by S. Kelly, E. B. Hook, D. T. Janerich, and I. H. Porter. Academic Press, New York. Naggan, L., and MacMahon, B. (1967). Ethnic differences in the prevalence of anencephaly and spina bifida in Boston, Mass. New England Journal of Medicine, 277, 1119-1123.","journal-title":"New England Journal of Medicine; Porter"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/224373a0","article-title":"Anencephaly and spina bifida: a possible example of cytoplasmic inheritance in man","volume":"224","author":"Nance, W.E.","year":"1969","unstructured":"Nance, W. E. (1969). Anencephaly and spina bifida: a possible example of cytoplasmic inheritance in man. Nature, 224, 373-374.","journal-title":"Nature"},{"key":"ref_27","first-page":"398","article-title":"A study of major congenital defects in Japanese infants","volume":"10","author":"Neel, J.V.","year":"1958","unstructured":"Neel, J. V. (1958). A study of major congenital defects in Japanese infants. American Journal of Human Genetics, 10, 398-445.","journal-title":"American Journal of Human Genetics"},{"key":"ref_28","first-page":"275","article-title":"Incidence of malformations in abortions","volume-title":"Congenital Malformations","author":"Nishimura, H.","year":"1970","unstructured":"Nishimura, H. (1970). Incidence of malformations in abortions. In Congenital Malformations, pp. 275-283. Ed. by F. C. Fraser and V. A. McKusick. Excerpta Medica, Amsterdam."},{"key":"ref_29","first-page":"67","article-title":"Hypothesis: anencephaly and spina bifida are usually preventable by avoidance of a specific but unidentified substance present in certain potato tubers","volume":"26","author":"Renwick, J.H.","year":"1972","unstructured":"Renwick, J. H. (1972). Hypothesis: anencephaly and spina bifida are usually preventable by avoidance of a specific but unidentified substance present in certain potato tubers. British Journal of Preventive and Social Medicine, 26, 67-88.","journal-title":"British Journal of Preventive and Social Medicine"},{"year":"1972","author":"Richards, I.D.G.; McIntosh, H.T.; Sweenie, S.","key":"ref_30","unstructured":"Richards, I. D. G., McIntosh, H. T., and Sweenie, S. (1972)."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1136\/bmj.4.5883.20","article-title":"Area differences in spontaneous abortion rates in South Wales and their relation to neural tube defect incidence","volume":"4","author":"Roberts, C.J.; Lloyd, S.","year":"1973","unstructured":"Roberts, C. J., and Lloyd, S. (1973). Area differences in spontaneous abortion rates in South Wales and their relation to neural tube defect incidence. British Medical Journal, 4, 20-22.","journal-title":"British Medical Journal"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1111\/j.1469-8749.1969.tb01492.x","article-title":"Epidemiology of stillbirths from congenital abnormalities in England and Wales 1961-1966","volume":"11","author":"Rogers, S.C.","year":"1969","unstructured":"Rogers, S. C. (1969). Epidemiology of stillbirths from congenital abnormalities in England and Wales 1961-1966. Developmental Medicine and Child Neurology, 11, 617-629.","journal-title":"Developmental Medicine and Child Neurology"},{"key":"ref_33","first-page":"26","article-title":"Anencephalus, spina bifida, twins, and teratoma","volume":"30","author":"Rogers, S.C.","year":"1976","unstructured":"Rogers, S. C. (1976). Anencephalus, spina bifida, twins, and teratoma. British Journal ofPreventive and Social Medicine, 30, 26-28.","journal-title":"British Journal ofPreventive and Social Medicine"},{"key":"ref_34","first-page":"81","article-title":"Anencephalus: a changing sex ratio","volume":"27","author":"Rogers, S.C.; Morris, M.","year":"1973","unstructured":"Rogers, S. C., and Morris, M. (1973). Anencephalus: a changing sex ratio. British Journal of Preventive and Social Medicine, 27, 81-84.","journal-title":"British Journal of Preventive and Social Medicine"},{"key":"ref_35","article-title":"Anencephalus, Spina Bifida and Hydrocephalus: England and Wales 1964-72","volume":"32","author":"Rogers, S.C.; Weatherall, J.A.C.","year":"1976","unstructured":"Rogers, S. C., and Weatherall, J. A. C. (1976). Anencephalus, Spina Bifida and Hydrocephalus: England and Wales 1964-72. OPCS Studies on Medical and Population Subjects, No. 32. HMSO, London.","journal-title":"OPCS Studies on Medical and Population Subjects"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1111\/j.1469-1809.1959.tb01471.x","article-title":"The incidence of anencephaly in a polytypic population","volume":"23","author":"Searle, A.G.","year":"1959","unstructured":"Searle, A. G. (1959). The incidence of anencephaly in a polytypic population. Annals of Human Genetics, 23, 279-288.","journal-title":"Annals of Human Genetics"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/j.1469-1809.1976.tb00132.x","article-title":"Statistical resolution of genetic heterogeneity in familial disease","volume":"39","author":"Smith, C.","year":"1976","unstructured":"Smith, C. (1976). Statistical resolution of genetic heterogeneity in familial disease. Annals of Human Genetics, 39, 281-291.","journal-title":"Annals of Human Genetics"},{"key":"ref_38","first-page":"40","article-title":"The sex ratio in spina bifida","author":"Timson, J.","year":"1969","unstructured":"Timson, J. (1969). The sex ratio in spina bifida. Genetica, 40,427-433.","journal-title":"Genetica"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/BF00958926","article-title":"The sex ratio in anencephaly","volume":"41","author":"Timson, J.","year":"1970","unstructured":"Timson, J. (1970). The sex ratio in anencephaly. Genetica, 41, 457-465.","journal-title":"Genetica"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1136\/jmg.2.3.161","article-title":"Incidence and family aggregation of major congenital malformation of central nervious system","volume":"2","author":"Williamson, E.M.","year":"1965","unstructured":"Williamson, E. M. (1965). Incidence and family aggregation of major congenital malformation of central nervious system. Journal of Medical Genetics, 2, 161-172.","journal-title":"Journal of Medical Genetics"},{"key":"ref_41","first-page":"32","article-title":"Congenital malformations of the central nervous system among Glasgow births 1964-68","volume":"28","author":"Wilson, T.S.","year":"1970","unstructured":"Wilson, T. S. (1970). Congenital malformations of the central nervous system among Glasgow births 1964-68. Health Bulletin, 28, 32-38.","journal-title":"Health Bulletin"},{"key":"ref_42","first-page":"623","article-title":"Genetics of anencephaly and spina bifida","volume":"2","author":"Yen, S.; MacMahon, B.","year":"1968","unstructured":"Yen, S., and MacMahon, B. (1968). Genetics of anencephaly and spina bifida. Lancet, 2, 623-626.","journal-title":"Lancet"},{"key":"ref_43","unstructured":"Requests for reprints to Dr J. M. Lalouel, Population Genetics Laboratory, University of Hawaii at Manoa, 1980 East-West Road, Honolulu, Hawaii 96822.","article-title":"Requests for reprints to Dr J. M. Lalouel, Population Genetics Laboratory, University of Hawaii at Manoa, 1980 East-West Road"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.1.8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:45:53Z","timestamp":1759722353000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.1.8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,2]]},"references-count":43,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1979,2,1]]},"published-print":{"date-parts":[[1979,2]]}},"alternative-id":["10.1136\/jmg.16.1.8"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.1.8","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1979,2]]}}}