{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:10:02Z","timestamp":1760721002924,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,10]]},"DOI":"10.1136\/jmg.15.5.405","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"405-406","source":"Crossref","is-referenced-by-count":1,"title":["Placentation, anencephaly, and spina bifida."],"prefix":"10.1136","volume":"15","author":[{"given":"W H","family":"James","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1016\/S0140-6736(58)92062-2","article-title":"Epidemiology of stillbirths and infant deaths due to congenital malformation","volume":"1","author":"Anderson, W.J.R.; Baird, D.; Thomson, A.D.","year":"1958","unstructured":"Anderson, W. J. R., Baird, D., and Thomson, A. D. (1958). Epidemiology of stillbirths and infant deaths due to congenital malformation. Lancet, 1, 1304.","journal-title":"Lancet"},{"key":"ref_2","article-title":"The Pathology of the Human Placenta","author":"Benirschke, K.; Driscoll, S.G.","year":"1967","unstructured":"Benirschke, K., and Driscoll, S. G. (1967). The Pathology of the Human Placenta. Springer-Verlag, New York."},{"key":"ref_3","first-page":"359","article-title":"The placenta in anencephali","volume":"159","author":"Berge, B.S.","year":"1965","unstructured":"Berge, B. S. (1965). The placenta in anencephali. Gynaecologia, 159, 359-364.","journal-title":"Gynaecologia"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1093\/ajcp\/45.3.247","article-title":"Absence of one umbilical artery","volume":"45","author":"Cipparone, J.R.","year":"1966","unstructured":"Cipparone, J. R. (1966). Absence of one umbilical artery. American Journal ofClinical Pathology, 45, 247-25 1.","journal-title":"American Journal ofClinical Pathology"},{"key":"ref_5","first-page":"174","article-title":"A study of 137 cases of anencephaly","volume":"11","author":"Coffey, V.; Jessop, W.J.E.","year":"1957","unstructured":"Coffey, V., and Jessop, W. J. E. (1957). A study of 137 cases of anencephaly. British Journal ofPreventive and Social Medicine, 11, 174-180.","journal-title":"British Journal ofPreventive and Social Medicine"},{"key":"ref_6","first-page":"3","article-title":"Twinning and anencephaly","author":"James, W.H.","year":"1976","unstructured":"James, W. H. (1976). Twinning and anencephaly. Annals ofHuman Biology, 3,401-409.","journal-title":"Annals ofHuman Biology"},{"issue":"79-8","key":"ref_7","first-page":"1","article-title":"Recurrence rates in sibships and concordance rates in twins for anencephaly","volume":"5","author":"James, W.H.","year":"1978","unstructured":"James, W. H. (1978). Recurrence rates in sibships and concordance rates in twins for anencephaly. Annals of Human Biology, 5, 79-8 1.","journal-title":"Annals of Human Biology"},{"key":"ref_8","first-page":"3","article-title":"A study of the causes underlying the origin of human monsters","volume":"19","author":"Mall, F.P.","year":"1908","unstructured":"Mall, F. P. (1908). A study of the causes underlying the origin of human monsters. Journal ofMorphology, 19, 3-367.","journal-title":"Journal ofMorphology"},{"key":"ref_9","first-page":"183","article-title":"Congenital malformations of the","volume":"3","author":"Record, R.G.; McKeown, T.","year":"1949","unstructured":"Record, R. G., and McKeown, T. (1949). Congenital malformations of the C.N.S. A survey of 930 cases. British Journal of Social Medicine, 3, 183-219.","journal-title":"British Journal of Social Medicine; A survey of 930 cases"},{"key":"ref_10","first-page":"218","article-title":"Congenital malformations and environmental influences in pregnancy","volume":"23","author":"Richards, I.D.G.","year":"1969","unstructured":"Richards, I. D. G. (1969). Congenital malformations and environmental influences in pregnancy. British Journal ofPreventive and Social Medicine, 23, 218-225.","journal-title":"British Journal ofPreventive and Social Medicine"},{"key":"ref_11","first-page":"96","article-title":"A 10-year study of anencephaly","author":"Smilkstein, G.","year":"1962","unstructured":"Smilkstein, G. (1962). A 10-year study of anencephaly. California Medicine, 96,350-353.","journal-title":"California Medicine"},{"key":"ref_12","first-page":"6","article-title":"Anencephaly in Liverpool","author":"Smithells, R.W.; Chinn, E.R.; Franklin, D.","year":"1964","unstructured":"Smithells, R. W., Chinn, E. R., and Franklin, D. (1964). Anencephaly in Liverpool. Developmental Medicine and Child Neurology, 6,231-240.","journal-title":"Developmental Medicine and Child Neurology"},{"key":"ref_13","first-page":"51","article-title":"Vitamin deficiencies and neural tube defects","volume-title":"Archives ofDisease in Childhood","author":"Smithells, R.W.; Sheppard, S.; Schorah, C.J.","year":"1976","unstructured":"Smithells, R. W., Sheppard, S., and Schorah, C. J. (1976). Vitamin deficiencies and neural tube defects. Archives ofDisease in Childhood, 51,944-950."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/S0002-9378(24)90667-3","article-title":"The placental infarct and its relation to the etiology of deformed babies","volume":"8","author":"Talbot, J.A.","year":"1924","unstructured":"Talbot, J. A. (1924). The placental infarct and its relation to the etiology of deformed babies. American Journal of Obstetrics and Gynecology, 8, 271-288.","journal-title":"American Journal of Obstetrics and Gynecology"},{"key":"ref_15","article-title":"Reproduction in a woman with mosaicism, in which the major cell line was 46, XX, and a few cells were 45, XX, t(21q21q), was recently published in the Journal ofMedical Genetics","volume-title":"This woman gave birth to a son with Down's syndrome, whose karyotype was 46, XY,-21,+t(21q21q). Karyotypes of lymphocytes from the woman and her husband were normal. Only after multiple tissues from the woman were analysed (skin, right ovary) were cells containing the 21q21q translocation detected. The percentage of cells containing the translocation was consistently less than 10%. A subsequent fetus was also found to have 46, XY,-21,+t(21q21q) and the pregnancy terminated","author":"SIR","year":"1977","unstructured":"SIR, Reproduction in a woman with mosaicism, in which the major cell line was 46,XX, and a few cells were 45,XX,t(21q21q), was recently published in the Journal ofMedical Genetics (Mark et al., 1977). This woman gave birth to a son with Down's syndrome, whose karyotype was 46,XY,-21,+t(21q21q). Karyotypes of lymphocytes from the woman and her husband were normal. Only after multiple tissues from the woman were analysed (skin, right ovary) were cells containing the 21q21q translocation detected. The percentage of cells containing the translocation was consistently less than 10%. A subsequent fetus was also found to have 46,XY,-21,+t(21q21q) and the pregnancy terminated."},{"year":"t(21q21q).","unstructured":"Some years ago, we reported (Wilroy et al., 1969) a family in which two sibs with Down's syndrome were thought to have de novo 21q2lq translocations. After using banding techniques, the karyotype of one of the sibs was found to be 46,XX,-21,+t(2lq2lq). The second sib died before the advent of banding techniques. The karyotypes of lymphocytes of both parents were normal. A skin biopsy was obtained from the mother, but the father refused to be biopsied. Only after 436 cells were analysed from the skin biopsy of the mother did we find one cell with the karyotype 45,XX,t(21q21q).","article-title":"Some years ago, we reported (Wilroy et al., 1969) a family in which two sibs with Down's syndrome were thought to have de novo 21q2lq translocations. After using banding techniques, the karyotype of one of the sibs was found to be 46, XX,-21,+t(2lq2lq). The second sib died before the advent of banding techniques. The karyotypes of lymphocytes of both parents were normal. A skin biopsy was obtained from the mother, but the father refused to be biopsied. Only after 436 cells were analysed from the skin biopsy of the mother did we find one cell with the karyotype 45, XX","key":"ref_16"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.5.405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T16:51:54Z","timestamp":1760719914000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.5.405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,10]]},"references-count":16,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1978,10,1]]},"published-print":{"date-parts":[[1978,10]]}},"alternative-id":["10.1136\/jmg.15.5.405"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.5.405","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,10]]}}}