{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T16:33:13Z","timestamp":1790094793960,"version":"4.0.1"},"reference-count":34,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,6]]},"abstract":"<jats:p>Alagille syndrome (AGS) is a well defined genetic disorder characterised by five major features. An autosomal dominant mode of transmission with reduced penetrance has been suggested by the analysis of a limited number of families. However there has been no statistical analysis. We report here the first segregation analysis of AGS, using 33 families collected through 43 probands. Segregation analysis of these families allowed us to conclude that AGS is transmitted as a dominant disorder with 94% penetrance and 15% of cases are sporadic. The expressivity of the phenotype was variable and 26 persons (15 parents and 11 sibs) were identified as presenting minor forms of the disease. These results are valuable for genetic counselling.<\/jats:p>","DOI":"10.1136\/jmg.31.6.453","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"453-457","source":"Crossref","is-referenced-by-count":65,"title":["Segregation analysis of Alagille syndrome."],"prefix":"10.1136","volume":"31","author":[{"given":"S","family":"Dhorne-Pollet","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J F","family":"Deleuze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Hadchouel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Bona\u00efti-Pelli\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1994,6,1]]},"reference":[{"key":"ref_1","first-page":"63","article-title":"Hepatic ductular hvpoplasia associated with characteristic facies, vertebral malformations, retarted physical, mental, and sexual dcevelopment, and cardiac murmur","volume":"86","author":"Alagille, D.; Odihvre, M.; Gautier, M.; Dommergues, J.P.","year":"1975","unstructured":"Alagille D, Odihvre M, Gautier M, Dommergues JP. Hepatic ductular hvpoplasia associated with characteristic facies, vertebral malformations, retarted physical, mental, and sexual dcevelopment, and cardiac murmur. 7 Pediatir 1975;86:63-7 1."},{"key":"ref_2","first-page":"195","article-title":"Syndromic paucity of interlobular bile ducts (Alagille syndrome or artcriohcpatic dvsplasia): review of 80 cases","volume-title":"I TPediatr","volume":"10","year":"1987","unstructured":"Alagillc D, Estrada A, Hadchouel M, Gautier Ni, 0di&vre M, Dommergucs JP. Syndromic paucity of interlobular bile ducts (Alagille syndrome or artcriohcpatic dvsplasia): review of 80 cases. I TPediatr 1987;i10:195-200."},{"issue":"91","key":"ref_3","first-page":"520","article-title":"Arteriohepatic dx splasia: a benign syndrome of intrahepatic cholestasis with multiplc organ involvement","volume":"1979","author":"F, Riclv C.A.Cotlier; PS, Jensen; G, Klatskin","unstructured":"Riclv C A Cotlier F, Jensen PS, Klatskin G. Arteriohepatic dx splasia: a benign syndrome of intrahepatic cholestasis with multiplc organ involvement. Annii Internsl Aled 1979,91:520-7.","journal-title":"Annii Internsl Aled"},{"key":"ref_4","first-page":"314","article-title":"Renal lipidosis associated with arteriohepatic dvsplasia (Alagille's syndrome)","volume":"18","author":"Chung-Park, M.; Petrelli, M.; Tavill, A.S.; P\\W, Hall; Henoch, M.S.; Dahms, B.B.","year":"1982","unstructured":"Chung-Park M, Petrelli M, Tavill AS, Hall P\\W, Henoch MS, Dahms BB. Renal lipidosis associated with arteriohepatic dvsplasia (Alagille's syndrome). C\/in Nephrol 1982;18:314-20.","journal-title":"C\/in Nephrol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"557","DOI":"10.3109\/15513818709161419","article-title":"Rcnal histopathology in Alagille svndrome","volume":"7","author":"Russo, P.A.; Ellis, D.; Hashida, Y.","year":"1987","unstructured":"Russo PA, Ellis D, Hashida Y. Rcnal histopathology in Alagille svndrome. Pedlatric Pathl\/ 1987;7:557-68.","journal-title":"Pedlatric Pathl\/"},{"key":"ref_6","first-page":"169","article-title":"Nephropathx in arteriohcpatic dysplasia (Alagille syndrome)","volume":"9","author":"Wolfish, N.M.; Shanon, A.","year":"1988","unstructured":"Wolfish NM, Shanon A. Nephropathx in arteriohcpatic dysplasia (Alagille syndrome). Child Nephlrtol Ur-ol 1988;9: 169-72.","journal-title":"Child Nephlrtol Ur-ol"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1136\/adc.52.5.360","article-title":"Studies of the aetiology of neonatal hepatitis and biliary atresia","volume":"52","author":"Danks, D.M.; Campbell, P.E.; Jack, I.; Rogers, J.; Smith, A.L.","year":"1977","unstructured":"Danks DM, Campbell PE, Jack I, Rogers J, Smith AL. Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child 1977;52:360-7.","journal-title":"Arch Dis Child"},{"key":"ref_8","first-page":"163","article-title":"Cholestatis in children","volume-title":"biliars tract disease ii children","author":"Alagille, D.; Odi&vre, M.","year":"1979","unstructured":"Alagille D, Odi&vre M. Cholestatis in children. In: Alagille D, Odievre M, eds. Li'ver and biliars tract disease ii children. New York: Wiley, 1979:163-95."},{"key":"ref_9","first-page":"61","article-title":"Liver transplantation for arteriohepatic dysplasia (Alagille syndrome)","volume":"5","author":"Marino, I.R.; ChapChap, P.; Esquivel, C.O.","year":"1992","unstructured":"Marino IR, ChapChap P, Esquivel CO, et al. Liver transplantation for arteriohepatic dysplasia (Alagille syndrome). Tranispl IJit 1992;5:61-4.","journal-title":"Tranispl IJit"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1002\/ajmg.1320240411","article-title":"Del(20p) with manifestations of arteriohepatic dysplasia","volume":"24","author":"Bvrne, J.L.B.; Harrod, M.J.E.; Friedmani, J.M.; Howard-Peeblcs, P.N.","year":"1986","unstructured":"Bvrne JLB, Harrod MJE, Friedmani JM, Howard-Peeblcs PN. Del(20p) with manifestations of arteriohepatic dysplasia. Am]i Med Geniet 1986;24:673-8.","journal-title":"Am]i Med Geniet"},{"key":"ref_11","first-page":"1084","article-title":"Malformazioni multiple congenite in un bambino portatore di una anomalia cromosomica del gruppo F (46 XY, 20-p), figlio di un sogetto, clinicamente sano, affetto da analoga malformazione cromosomica","volume":"22","author":"Loiodice, G.; Rovetta, D.G.; Bellicini, G.; Callura, G.; Bergamo, F.","year":"1970","unstructured":"Loiodice G, Rovetta DG, Bellicini G, Callura G, Bergamo F. Malformazioni multiple congenite in un bambino portatore di una anomalia cromosomica del gruppo F (46 XY, 20-p), figlio di un sogetto, clinicamente sano, affetto da analoga malformazione cromosomica. MinervalPediatrr 1970;22:1084-8.","journal-title":"MinervalPediatrr"},{"key":"ref_12","first-page":"239","article-title":"Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome)","volume":"83","author":"Schnittger, S.; H6fers, C.; I', Heidemann; Beermann, F.; Hansmann, I.","year":"1989","unstructured":"Schnittger S, H6fers C, Heidemann I', Beermann F, Hansmann I. Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome). Hiomz Geniet 1989;83:239-44.","journal-title":"Hiomz Geniet"},{"key":"ref_13","first-page":"73","article-title":"Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome)","volume":"116","author":"Zhang, F.R.; Delcuze, J.F.; Aurias, A.","year":"1990","unstructured":"Zhang FR, Delcuze JF, Aurias A, et al. Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome). ] Pediatr 1990;116:73-7."},{"key":"ref_14","first-page":"729","article-title":"Alagille syndrome and deletion of 20p. I AMed Genet","volume":"27","author":"Anad, F.; Burn, J.; Matthews, D.","year":"1990","unstructured":"Anad F, Burn J, Matthews D, et al. Alagille syndrome and deletion of 20p. I AMed Genet 1990;27:729-37."},{"key":"ref_15","first-page":"234","article-title":"XX 46, XXdel(20)(pter-pl2.2) mosaicism limited to fibroblasts associated with MCA\/MR and severe growth deficit","volume":"35","year":"1992","unstructured":"Fryns JP, Kleczkowska A, Decock P, Massa G, Van den Berghe H. 46,XX 46,XXdel(20)(pter-pl2.2) mosaicism limited to fibroblasts associated with MCA\/MR and severe growth deficit. Ann Genet (Paris) 1992;35:234-6.","journal-title":"Ann Genet (Paris)"},{"key":"ref_16","first-page":"93","article-title":"L'atresie des voies biliaires intrahepatiques avec voies biliaires extrahepatiques permeables chez l'enfant. Revue Midico-Chirurgicale des Maladies du Foie, du Pancreas et","volume":"45","author":"Alagille, D.; Thomnassin, N.","year":"1970","unstructured":"Alagille D, Thomnassin N. L'atresie des voies biliaires intrahepatiques avec voies biliaires extrahepatiques permeables chez l'enfant. Revue Midico-Chirurgicale des Maladies du Foie, du Pancreas et de la Rate 1970;45:93."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1136\/adc.48.6.459","article-title":"Arteriohepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver disease","volume":"48","author":"Watson, G.H.; Miller, V.","year":"1973","unstructured":"Watson GH, Miller V. Arteriohepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child 1973;48:459-66.","journal-title":"Arch Dis Child"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1002\/hep.1840020413","article-title":"Four generations of arteriohepatic dysplasia","volume":"2","author":"LaBrecque, D.R.; Mitros, F.A.; Nathan, R.J.; Romanchuk, K.G.; Judisch, G.F.; El-Khoury, G.H.","year":"1982","unstructured":"LaBrecque DR, Mitros FA, Nathan RJ, Romanchuk KG, Judisch GF, El-Khoury GH. Four generations of arteriohepatic dysplasia. Hepatology 1982;2:467-74.","journal-title":"Hepatology"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1002\/ajmg.1320190215","article-title":"Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members","volume":"19","author":"Shulman, S.A.; Hyams, J.S.; Gunta, R.; Greenstein, R.M.; Cassidy, S.","year":"1984","unstructured":"Shulman SA, Hyams JS, Gunta R, Greenstein RM, Cassidy S. Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members. Am Med Genet 1984;19:325-32.","journal-title":"Am Med Genet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1126\/science.127.3289.79","article-title":"Segregation analysis in human genetics","volume":"127","author":"Morton, N.E.","year":"1958","unstructured":"Morton NE. Segregation analysis in human genetics. Science 1958;127:79-80.","journal-title":"Science"},{"key":"ref_21","first-page":"1","article-title":"Genetic tests under incomplete ascertainment","volume":"11","author":"Morton, N.E.","year":"1959","unstructured":"Morton NE. Genetic tests under incomplete ascertainment. Am J Hum Genet 1959;11:1-16.","journal-title":"Am J Hum Genet"},{"issue":"8","key":"ref_22","first-page":"255","article-title":"The estimation of the frequencies of recessive conditions in man","volume":"1938","author":"Haldane, J.B.S.","unstructured":"Haldane JBS. The estimation of the frequencies of recessive conditions in man. Ann Eugen 1938;8:255-62.","journal-title":"Ann Eugen"},{"key":"ref_23","first-page":"339","article-title":"A test for homogeneity of records of familial abnormalities","volume":"14","author":"Haldane, J.B.S.","year":"1949","unstructured":"Haldane JBS. A test for homogeneity of records of familial abnormalities. Ann Eugen 1949;14:339-41."},{"key":"ref_24","first-page":"319","article-title":"The truncated binomial distribution","volume":"14","author":"Finney, D.J.","year":"1949","unstructured":"Finney DJ. The truncated binomial distribution. Ann Eugen 1949;14:319-28."},{"key":"ref_25","article-title":"Advanced statistical methods in biometric research","author":"Rao, C.R.","year":"1952","unstructured":"Rao CR. Advanced statistical methods in biometric research. New York: John Wiley, 1952."},{"key":"ref_26","first-page":"959","article-title":"Les stenoses congenitales de l'artere pulmonaire et de ses branches","volume":"30","author":"Hoeffel, J.C.; Henry, M.; Jimenez, J.; Pernot, C.","year":"1973","unstructured":"Hoeffel JC, Henry M, Jimenez J, Pernot C. Les stenoses congenitales de l'artere pulmonaire et de ses branches. Arch Fr Pediatr 1973;30:959-76.","journal-title":"Arch Fr Pediatr"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1093\/tropej\/35.5.221","article-title":"Detection of cardiac problems among school children by health screening","volume":"35","author":"Chan, K.Y.; Yip, W.C.; Tay, J.S.; Rajan, U.","year":"1989","unstructured":"Chan KY, Yip WC, Tay JS, Rajan U. Detection of cardiac problems among school children by health screening. Trop Pediatr 1989;35:221-4.","journal-title":"Trop Pediatr"},{"key":"ref_28","first-page":"25","article-title":"Heart disease in Turner's syndrome","volume":"43","author":"Mazzanti, L.; Prandstraller, D.; Tassinari, D.","year":"1988","unstructured":"Mazzanti L, Prandstraller D, Tassinari D, et al. Heart disease in Turner's syndrome. Helv Paediatr Acta 1988;43:25-31.","journal-title":"Helv Paediatr Acta"},{"key":"ref_29","first-page":"157","article-title":"The early origin of vertebral anomalies, as illustrated by a \"butterfly vertebra\"","volume":"149","year":"1986","unstructured":"Muller F, O'Rahilly R, Benson DR. The early origin of vertebral anomalies, as illustrated by a \"butterfly vertebra\". Anat 1986;149:157-69.","journal-title":"Anat"},{"key":"ref_30","first-page":"7","article-title":"A butterfly vertebra or a wedge fracture?","volume":"17","author":"Garcia, F.; Florez, M.T.; Conejero, J.A.","year":"1993","unstructured":"Garcia F, Florez MT, Conejero JA. A butterfly vertebra or a wedge fracture? Int Orthop 1993;17:7-10.","journal-title":"Int Orthop"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1055\/s-2008-1040571","article-title":"Familial intrahepatic cholestatic syndromes","volume":"7","author":"Riely, C.A.","year":"1987","unstructured":"Riely CA. Familial intrahepatic cholestatic syndromes. Semin Liver Dis 1987;7:119-33.","journal-title":"Semin Liver Dis"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0022-3476(83)80345-X","article-title":"Intrahepatic \"cholestasis facies\": is it specific for Alagille syndrome?","volume":"103","author":"Sokol, R.J.; Heubi, J.E.; Balistreri, W.F.","year":"1983","unstructured":"Sokol RJ, Heubi JE, Balistreri WF. Intrahepatic \"cholestasis facies\": is it specific for Alagille syndrome? Pediatr 1983;103:205-8.","journal-title":"Pediatr"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/S0022-3476(86)80377-8","article-title":"Contiguous gene syndrome: a component of recognizable syndromes","volume":"109","author":"Schmickel, R.D.","year":"1986","unstructured":"Schmickel RD. Contiguous gene syndrome: a component of recognizable syndromes. Jf Pediatr 1986;109:231-41.","journal-title":"Jf Pediatr"},{"key":"ref_34","first-page":"575","article-title":"Molecular cytogenetics: toward dissection of the contiguous gene syndrome","volume":"43","author":"Emanuel, B.S.","year":"1988","unstructured":"Emanuel BS. Molecular cytogenetics: toward dissection of the contiguous gene syndrome. Am Hum Genet 1988;43:575-8.","journal-title":"Am Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.6.453","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:31:39Z","timestamp":1760769099000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.6.453"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,6]]},"references-count":34,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1994,6,1]]},"published-print":{"date-parts":[[1994,6]]}},"alternative-id":["10.1136\/jmg.31.6.453"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.6.453","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,6]]}}}