{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T01:27:38Z","timestamp":1762997258888,"version":"build-2065373602"},"reference-count":19,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,12]]},"abstract":"<jats:p>A family is described in which both a father and son are affected with Ebstein's anomaly, while several other family members manifest different cardiac malformations. Five additional instances of familial Ebstein's anomaly were found in the literature and compared with our family. Inspection of possible modes of inheritance in this group of families suggests that Ebstein's anomaly is probably inherited as a polygenic character with a threshold phenomenon.<\/jats:p>","DOI":"10.1136\/jmg.13.6.532","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"532-535","source":"Crossref","is-referenced-by-count":13,"title":["Familial Ebstein's anomaly."],"prefix":"10.1136","volume":"13","author":[{"given":"A","family":"Rosenmann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Arad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Simcha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Schaap","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/0002-8703(68)90095-1","article-title":"Familial Ebstein's anomaly of the tricuspid valve","volume":"75","author":"Donegan, Jr., C.C.; Moore, M.M.; Wiley, Jr., T.M.; Hernandez, F.A.; Green, Jr., J.R.; Schiebler, G.L.","year":"1968","unstructured":"Donegan, C. C., Jr., Moore, M. M., Wiley, T. M., Jr., Hernandez, F. A., Green, J. R., Jr., and Schiebler, G. L. (1968). Familial Ebstein's anomaly of the tricuspid valve. American Heart Journal, 75, 375-379.","journal-title":"American Heart Journal"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/hrt.32.3.281","article-title":"Genetics and congenital heart disease","volume":"32","author":"Emanuel, R.","year":"1970","unstructured":"Emanuel, R. (1970). Genetics and congenital heart disease. British Heart Journal, 32, 281-291.","journal-title":"British Heart Journal"},{"key":"ref_3","first-page":"1","article-title":"Congenital heart disease in sibships ascertained by two affected siblings","volume":"6","author":"Fuhrman, W.","year":"1968","unstructured":"Fuhrman, W. (1968). Congenital heart disease in sibships ascertained by two affected siblings. Humangenetik, 6, 1-12.","journal-title":"Humangenetik"},{"key":"ref_4","article-title":"Normal und Pathologische Entwickling des Menschlinchen Herzens","author":"Goerttler, K.","year":"1958","unstructured":"Goerttler, K. (1958). Normal und Pathologische Entwickling des Menschlinchen Herzens. Georg Thieme Verlag, Kiel."},{"key":"ref_5","first-page":"664","article-title":"Maladie d'Ebstein dans une meme fratrie","volume":"49","author":"Gouffault, J.; Le Damany, L.","year":"1956","unstructured":"Gouffault, J. and Le Damany, L. (1956). Maladie d'Ebstein dans une meme fratrie. Archives des Maladies du Coeur et des Vaisseaux, 49, 664-670.","journal-title":"Archives des Maladies du Coeur et des Vaisseaux"},{"key":"ref_6","first-page":"1175","article-title":"Un type particulier d'anomalie congenitale de la valve mitrale","volume":"53","author":"Gouffault, J.; Le Damany, L.; Lenegre, J.","year":"1960","unstructured":"Gouffault, J., Le Damany, L., and Lenegre, J. (1960). Un type particulier d'anomalie congenitale de la valve mitrale. Archives des Maladies du Coeur et des Vaisseaux, 53, 1175-1181.","journal-title":"Archives des Maladies du Coeur et des Vaisseaux"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/0002-9149(66)90202-5","article-title":"Familial Ebstein's anomaly with emphasis on the surgical treatment","volume":"18","author":"Gueron, M.; Hirsch, M.; Stern, J.; Cohen, W.; Levy, M.J.","year":"1966","unstructured":"Gueron, M., Hirsch, M., Stern, J., Cohen, W., and Levy, M. J. (1966). Familial Ebstein's anomaly with emphasis on the surgical treatment. American Journal of Cardiology, 18, 105-111.","journal-title":"American Journal of Cardiology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/0002-9149(71)90038-5","article-title":"Ebstein's anomaly. Clinical profile and natural history","volume":"28","year":"1971","unstructured":"Kumar, A. E., Fyler, D. C., Miettinen, 0. S., and Nadas, A. S. (1971). Ebstein's anomaly. Clinical profile and natural history. American Journal of Cardiology, 28, 84-95.","journal-title":"American Journal of Cardiology"},{"key":"ref_9","first-page":"597","author":"Nadas, A.S.; Fyler, D.C.","year":"1972","unstructured":"Nadas, A. S. and Fyler, D. C. (1972). Pediatric Cardiology, p. 597.","journal-title":"Pediatric Cardiology"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1161\/01.CIR.38.3.604","article-title":"Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic environmental interaction","volume":"38","author":"Nora, J.J.","year":"1968","unstructured":"Nora, J. J. (1968). Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic environmental interaction. Circulation, 38, 604-617.","journal-title":"Circulation"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1002\/tera.1420030408","article-title":"Recurrence risks in common and uncommon congenital heart lesions","volume":"3","author":"Nora, J.J.; McGill, C.H.; MacNamara, D.G.","year":"1970","unstructured":"Nora, J. J., McGill, C. H., and MacNamara, D. G. (1970). Recurrence risks in common and uncommon congenital heart lesions. Teratology, 3, 325-330.","journal-title":"Teratology"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1161\/01.CIR.35.3.448","article-title":"Hereditary factors in atrial septal defect","volume":"35","author":"Nora, J.J.; MacNamara, D.G.; Fraser, F.C.","year":"1967","unstructured":"Nora, J. J., MacNamara, D. G., and Fraser, F. C. (1967). Hereditary factors in atrial septal defect. Circulation, 35, 448-456.","journal-title":"Circulation"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1136\/hrt.33.1.46","article-title":"Ebstein's anomaly. Clinical study of 32 patients in childhood","volume":"33","author":"Simcha, A.; Bonham-Carter, R.E.","year":"1971","unstructured":"Simcha, A. and Bonham-Carter, R. E. (1971). Ebstein's anomaly. Clinical study of 32 patients in childhood. British Heart Journal, 33, 46-49.","journal-title":"British Heart Journal"},{"key":"ref_14","article-title":"Developmental Horizons in Human Embryons Age Groups XI-XXIII. Carnegie Institution of","author":"Streeter, G.L.","year":"1951","unstructured":"Streeter, G. L. (1951). Developmental Horizons in Human Embryons Age Groups XI-XXIII. Carnegie Institution of Washington, Washington D.C."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/hrt.36.5.417","article-title":"Natural history of Ebstein's anomaly of tricuspid valve in childhood and adolescence. An intemational cooperative study of 505 cases","volume":"36","author":"Watson, H.","year":"1974","unstructured":"Watson, H. (1974). Natural history of Ebstein's anomaly of tricuspid valve in childhood and adolescence. An intemational cooperative study of 505 cases. British Heart Journal, 36, 417-427.","journal-title":"British Heart Journal"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1111\/j.1399-0004.1971.tb00267.x","article-title":"Accumulation of different congenital heart defects in one pedigree","volume":"2","author":"Zetterqvist, P.","year":"1971","unstructured":"Zetterqvist, P. (1971). Accumulation of different congenital heart defects in one pedigree. Clinical Genetics, 2, 123-127.","journal-title":"Clinical Genetics"},{"key":"ref_17","article-title":"With the institution of chromosome banding techniques, many new 'partial trisomy' syndromes have been identified (Lewandowski and Yunis","volume-title":"The majority of these cases result from clinically abnormal, chromosomally unbalanced segregants of reciprocal translocations. Therefore, karyotypic analysis allows the identification of the additional chromosomal material so that phenotypic-karyotypic correlations are possible. However, other instances of partial trisomy are the result of nondisjunction of apparently deleted chromosomes, leading to an extra abnormal marker chromosome","year":"1975","unstructured":"With the institution of chromosome banding techniques, many new 'partial trisomy' syndromes have been identified (Lewandowski and Yunis, 1975). The majority of these cases result from clinically abnormal, chromosomally unbalanced segregants of reciprocal translocations. Therefore, karyotypic analysis allows the identification of the additional chromosomal material so that phenotypic-karyotypic correlations are possible. However, other instances of partial trisomy are the result of nondisjunction of apparently deleted chromosomes, leading to an extra abnormal marker chromosome."},{"key":"ref_18","article-title":"from phytohaemagglutinin (PHA) stimulated peripheral lymphocytes, were studied in the proposita and her parents. In addition, cultured skin fibroblasts of the proposita were examined. The initiation, culture, and harvest of cells for cytogenetic evaluation were according to standard methods. G-banding patterns were achieved by the 'hot-plate Giemsa pH 9'","author":"Chromosomes","year":"1971","unstructured":"Chromosomes, from phytohaemagglutinin (PHA) stimulated peripheral lymphocytes, were studied in the proposita and her parents. In addition, cultured skin fibroblasts of the proposita were examined. The initiation, culture, and harvest of cells for cytogenetic evaluation were according to standard methods. G-banding patterns were achieved by the 'hot-plate Giemsa pH 9' technique of Patil et al (1971)."},{"key":"ref_19","article-title":"The karyotypes of the parents were numerically and structurally normal. In both lymphocytes and fibroblasts, the proposita had a modal chromosome number of 47 with an extra small acrocentric chromosome, the same size and morphology as a G group element. This marker participated in satellite association with other acrocentrics in 40% of the metaphases. After G-banding (Fig. 2), it became apparent that the marker was not a member of Group G, but did fit the pattern of either a deleted No","volume":"15","year":"14","unstructured":"The karyotypes of the parents were numerically and structurally normal. In both lymphocytes and fibroblasts, the proposita had a modal chromosome number of 47 with an extra small acrocentric chromosome, the same size and morphology as a G group element. This marker participated in satellite association with other acrocentrics in 40% of the metaphases. After G-banding (Fig. 2), it became apparent that the marker was not a member of Group G, but did fit the pattern of either a deleted No. 14 or 15."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.6.532","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:21:53Z","timestamp":1760721713000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.6.532"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,12]]},"references-count":19,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1976,12,1]]},"published-print":{"date-parts":[[1976,12]]}},"alternative-id":["10.1136\/jmg.13.6.532"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.6.532","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1976,12]]}}}