{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:15:42Z","timestamp":1761488142212,"version":"build-2065373602"},"reference-count":19,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,10]]},"abstract":"<jats:p>Two unrelated newborn infants with multiple malformations were found to have complete trisomy 9 in all cells examined. In both, the phenotype was similar, consisting of characteristic facial appearance (microphthalmia, bulbous nose, micrognathia, cleft palate, low set ears), skeletal abnormalities (dislocated joints, flexion contractures of the fingers), cardiovascular malformations (persistent left superior vena cava, ventricular septal defect), hypoplastic genitalia, renal anomalies, and central nervous system malformations. Both died during the first few hours of life. Comparison of these two infants with the previously reported cases reveals a consistent pattern of malformations and very short survival associated with trisomy 9. These cases illustrate the importance of doing chromosome studies on infants with congenital malformations dying in the newborn period and the usefulness of such studies in counselling parents regarding the risk of recurrence.<\/jats:p>","DOI":"10.1136\/jmg.18.5.377","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"377-382","source":"Crossref","is-referenced-by-count":28,"title":["Complete trisomy 9 in two liveborn infants."],"prefix":"10.1136","volume":"18","author":[{"given":"S","family":"Mantagos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J W","family":"McReynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M R","family":"Seashore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W R","family":"Breg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1136\/jmg.12.3.265","article-title":"Identification of C trisomies in human abortuses","volume":"12","year":"1975","unstructured":"Identification of C trisomies in human abortuses. J Med Genet 1975;12:265-8.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"1","article-title":"Aetiology of spontaneous abortions-a cytogenetic and epidemiological study of 288 abortuses and their parents","volume":"52","author":"Lauritsen, J.G.","year":"1976","unstructured":"Lauritsen JG. Aetiology of spontaneous abortions-a cytogenetic and epidemiological study of 288 abortuses and their parents. Acta Obstet Gynaecol Scand [Suppl] 1976;52:1-29.","journal-title":"Acta Obstet Gynaecol Scand [Suppl]"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1136\/jmg.10.2.184","article-title":"A case of trisomy 9","volume":"10","author":"Feingold, M.; Atkins, L.","year":"1973","unstructured":"Feingold M, Atkins L. A case of trisomy 9. J Med Genet 1973;10:184-7.","journal-title":"J Med Genet"},{"key":"ref_4","first-page":"223","article-title":"Trisomy 9: predominance of cardiovascular, liver, brain, and skeletal anomalies in the first diagnosed case","volume":"5","author":"Kurnick, J.; Atkins, L.; Feingold, M.; Hills, J.; Dvorak, A.","year":"1973","unstructured":"Kurnick J, Atkins L, Feingold M, Hills J, Dvorak A. Trisomy 9: predominance of cardiovascular, liver, brain, and skeletal anomalies in the first diagnosed case. Hum Pathol 1973;5:223-32.","journal-title":"Hum Pathol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/BF00295299","article-title":"Trisomy 9 associated with enlarged 9qh segment in a liveborn","volume":"34","author":"Seabright, M.; Gregson, N.; Mould, S.","year":"1976","unstructured":"Seabright M, Gregson N, Mould S. Trisomy 9 associated with enlarged 9qh segment in a liveborn. Hum Genet 1976; 34:323-5.","journal-title":"Hum Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/S0022-3476(78)80444-2","article-title":"The trisomy 9 syndrome. Multiple congenital anomalies and unusual pathological findings","volume":"92","author":"Mace, S.E.; Maclntyre, M.N.; Turk, K.B.; Johnson, W.E.","year":"1978","unstructured":"Mace SE, Maclntyre MN, Turk KB, Johnson WE. The trisomy 9 syndrome. Multiple congenital anomalies and unusual pathological findings. JPediatr 1978;92:446-8.","journal-title":"JPediatr"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1542\/peds.56.5.748","article-title":"The trisomy 9p syndrome","volume":"56","author":"Centerwall, W.R.; Peatty-Desana, J.","year":"1975","unstructured":"Centerwall WR, Peatty-Desana J. The trisomy 9p syndrome. Pediatrics 1975;56:748-55.","journal-title":"Pediatrics"},{"key":"ref_8","first-page":"233","article-title":"Partial trisomy 9q. A new syndrome","volume":"29","author":"Turleau, C.; de Grouchy, J.D.E.; Chavin-Colin, F.","year":"1975","unstructured":"Turleau C, de Grouchy JDE, Chavin-Colin F, et al. Partial trisomy 9q. A new syndrome. Humangenetik 1975; 29:233-41.","journal-title":"Humangenetik"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1136\/jmg.13.3.239","article-title":"Pure partial trisomy for the long arm of chromosome 9","volume":"13","author":"Faed, M.; Robertson, J.; Brown, S.; Smail, P.J.; Muckart, R.D.","year":"1976","unstructured":"Faed M, Robertson J, Brown S, Smail PJ, Muckart RD. Pure partial trisomy for the long arm of chromosome 9. J Med Genet 1976;13:239-42.","journal-title":"J Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/BF00291495","article-title":"Partial and complete trisomy 9: delineation of a trisomy 9 syndrome","volume":"32","author":"Sutherland, G.R.; Carter, R.F.; Morris, L.L.","year":"1976","unstructured":"Sutherland GR, Carter RF, Morris LL. Partial and complete trisomy 9: delineation of a trisomy 9 syndrome. Hum Genet 1976;32:133-40.","journal-title":"Hum Genet"},{"key":"ref_11","first-page":"306","article-title":"mosaicism","volume":"9","author":"Lewandowski, R.; Yunis, J.","year":"1977","unstructured":"Lewandowski R, Yunis J. Trisomy 9 mosaicism. Clin Genet 1977;11:306-10.","journal-title":"Trisomy"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/BF00527394","article-title":"Mosaic trisomy 9: two additional cases","volume":"38","author":"Tropp, M.; Currie, M.","year":"1977","unstructured":"Tropp M, Currie M. Mosaic trisomy 9: two additional cases. Hum Genet 1977; 38:131-5.","journal-title":"Hum Genet"},{"key":"ref_13","first-page":"63","article-title":"The frequency of chromosome abnormalities detected in consecutive newborn studies","volume-title":"Population cytogenetics in humans","author":"Hook, E.B.; Hamerton, J.L.","year":"1977","unstructured":"Hook EB, Hamerton JL. The frequency of chromosome abnormalities detected in consecutive newborn studies. In: Hook EB, Porter IH, eds. Population cytogenetics in humans. New York: Academic Press, 1977:63-79."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1093\/oxfordjournals.aje.a112374","article-title":"Epidemiology of chromosome abnormalities in man","volume":"105","author":"Jacobs, P.A.","year":"1977","unstructured":"Jacobs PA. Epidemiology of chromosome abnormalities in man. Am JEpidemiol 1977;105:180-91.","journal-title":"Am JEpidemiol"},{"key":"ref_15","first-page":"1","article-title":"Population cytogenetics of human abortuses","volume-title":"Population cytogenetics in humans","author":"Carr, D.H.; Gedeon, M.","year":"1977","unstructured":"Carr DH, Gedeon M. Population cytogenetics of human abortuses. In: Hook EB, Porter IH, eds. Population cytogenetics in humans. New York: Academic Press, 1977: 1-9."},{"key":"ref_16","first-page":"219","article-title":"Chromosomal error in relation to reproductive failure","author":"Pearson, P.L.; Geraedts, J.P.M.; Pawlowitski, I.H.","year":"1973","unstructured":"Pearson PL, Geraedts JPM, Pawlowitski IH. Chromosomal error in relation to reproductive failure. Paris: INSERM, 1973;219-29."},{"key":"ref_17","first-page":"289","article-title":"The origin of chromosome abnormalities in spontaneous abortions","volume-title":"embryonic and fetal death","author":"Jacobs, P.A.; Hassold, T.J.","year":"1980","unstructured":"Jacobs PA, Hassold TJ. The origin of chromosome abnormalities in spontaneous abortions. In: Hook EB, Porter IH, eds. Human embryonic and fetal death. New York: Academic Press, 1980:289-98."},{"key":"ref_18","first-page":"183","article-title":"Chromosome constitution of 500 infants dying during the perinatal period","volume":"23","author":"Machin, G.A.; Crolla, J.A.","year":"1974","unstructured":"Machin GA, Crolla JA. Chromosome constitution of 500 infants dying during the perinatal period. Humangenetik 1974;23:183-98.","journal-title":"Humangenetik"},{"key":"ref_19","first-page":"71","article-title":"Recurrence risks for chromosome abnormalities","volume-title":"communication and decision making in genetic counselling","author":"Jacobs, P.A.","year":"1979","unstructured":"Jacobs PA. Recurrence risks for chromosome abnormalities. In: Epstein CJ, et al, eds. Risk, communication and decision making in genetic counselling. New York: Alan R Liss, 1979:71-80."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.5.377","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:35:03Z","timestamp":1760733303000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.5.377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,10]]},"references-count":19,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1981,10,1]]},"published-print":{"date-parts":[[1981,10]]}},"alternative-id":["10.1136\/jmg.18.5.377"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.5.377","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,10]]}}}