{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T15:53:18Z","timestamp":1770997998549,"version":"3.50.1"},"reference-count":9,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1973,6]]},"abstract":"<jats:p>The first patient with trisomy 9, an infant who survived 28 days, is reported. Clinical findings included microcephaly, low-set malformed ears, small palpebral fissures, enophthalmos, bulbous nose, micrognathia, low hairline, congenital heart disease, skeletal abnormalities, small penis, hypoplastic scrotum, and a Dandy-Walker like deformity of the fourth ventricle.<\/jats:p>","DOI":"10.1136\/jmg.10.2.184","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"184-187","source":"Crossref","is-referenced-by-count":94,"title":["A Case of Trisomy 9"],"prefix":"10.1136","volume":"10","author":[{"given":"Murray","family":"Feingold","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonard","family":"Atkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1973,6,1]]},"reference":[{"key":"ref_1","first-page":"177","article-title":"Trisomie Cp: un nouveau syndrome","volume":"14","author":"Cantu, J.-M.; Buentello, L.; Armendares, S.","year":"1971","unstructured":"Cantu, J.-M., Buentello, L., and Armendares, S. (1971). Trisomie Cp: un nouveau syndrome. Annales de Genetique, 14, 177-186.","journal-title":"Annales de Genetique"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.9.1.1","article-title":"Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques","volume":"9","author":"Caspersson, T.; Lindsten, J.; Zech, L.; Buckton, K.E.; Price, W.H.","year":"1972","unstructured":"Caspersson, T., Lindsten, J., Zech, L., Buckton, K. E., and Price, W. H. (1972). Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques. Journal of Medical Genetics, 9, 1-7.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1111\/j.1601-5223.1971.tb02363.x","article-title":"The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and variability","volume":"67","author":"Caspersson, T.; Lomakka, G.; Zech, L.","year":"1971","unstructured":"Caspersson, T., Lomakka, G., and Zech, L. (1971). The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and variability. Hereditas, Genetisk Arkiv, 67, 89-102.","journal-title":"Hereditas, Genetisk Arkiv"},{"key":"ref_4","first-page":"12","article-title":"Presumed trisomy for the short arm of chromosome","author":"Hoehn, H.; Engel, W.; Reinwein, H.","year":"1971","unstructured":"Hoehn, H., Engel, W., and Reinwein, H. (1971). Presumed trisomy for the short arm of chromosome no. 9 not due to inherited translocation. Humangenetik, 12,175-181."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1016\/S0022-3476(70)80411-5","article-title":"Trisomy C in an infant with polycystic kidneys and other malformations","volume":"76","author":"Juberg, R.C.; Gilbert, E.F.; Salisbury, R.S.","year":"1970","unstructured":"Juberg, R. C., Gilbert, E. F., and Salisbury, R. S. (1970). Trisomy C in an infant with polycystic kidneys and other malformations. Journal of Pediatrics, 76, 598-603.","journal-title":"Journal of Pediatrics"},{"key":"ref_6","first-page":"217","article-title":"Sur quatre cas de trisomie pour le bras court du chromosome 9. Individualisation d'une nouvelle entite morbide","volume":"13","author":"Rethore, M.-O.; Larget-Piet, L.; Abonyi, D.; Boeswillwald, M.; Berger, R.; Carpentier, S.; Cruveiller, J.; Dutrillaux, B.; Lafourcade, J.; Penneau, M.; Lejeune, J.","year":"1970","unstructured":"Rethore, M.-O., Larget-Piet, L., Abonyi, D., Boeswillwald, M., Berger, R., Carpentier, S., Cruveiller, J., Dutrillaux, B., Lafourcade, J., Penneau, M., and Lejeune, J. (1970). Sur quatre cas de trisomie pour le bras court du chromosome 9. Individualisation d'une nouvelle entite morbide. Annales de Genetique, 13, 217-232.","journal-title":"Annales de Genetique"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"Rapid banding technique for human chromosomes","volume":"2","author":"Seabright, M.A.","year":"1971","unstructured":"Seabright, M. A. (1971). Rapid banding technique for human chromosomes. (Letter.) Lancet, 2, 971-972.","journal-title":"(Letter.) Lancet"},{"key":"ref_8","article-title":"The propositus, a 5-month-old male, with a history of recurrent pneumonias and failure to thrive, was born to a 39-year-old, gravida 4 para 4, mother and a 44-year-old father. Both parents had been married before, and the propositus is the only product of the present marriage. Family history was negative for abortions, stillbirths, or congenital malformations. Gestation was full term, with a breech presentation, and polyhydramnios. A Caesarean section was performed because of an obstetric problem in a previous pregnancy","author":"g","year":"2012","unstructured":"The propositus, a 5-month-old male, with a history of recurrent pneumonias and failure to thrive, was born to a 39-year-old, gravida 4 para 4, mother and a 44-year-old father. Both parents had been married before, and the propositus is the only product of the present marriage. Family history was negative for abortions, stillbirths, or congenital malformations. Gestation was full term, with a breech presentation, and polyhydramnios. A Caesarean section was performed because of an obstetric problem in a previous pregnancy. Birth weight was 2012 g. There were early respiratory and feeding difficulties. Recurrent pneumonias over the first four months of life necessitated almost continuous hospitalization.","journal-title":"Birth weight was; There were early respiratory and feeding difficulties. Recurrent pneumonias over the first four months of life necessitated almost continuous hospitalization"},{"key":"ref_9","article-title":"The report of a child with 46, XY,14q + karyotype is presented. The extra segment on the long arm of chromosome No. 14 was identified as the distal one third of the long arm of chromosome Received","volume-title":"Maternal and Child Health Service project 422","author":"Department of Health, Education and Welfare","year":"1973","unstructured":"The report of a child with 46,XY,14q + karyotype is presented. The extra segment on the long arm of chromosome No. 14 was identified as the distal one third of the long arm of chromosome Received 6 February 1973. * This work was supported in part by Department of Health, Education and Welfare, Maternal and Child Health Service project 422."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.2.184","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:41:21Z","timestamp":1760737281000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.2.184"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,6]]},"references-count":9,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1973,6,1]]},"published-print":{"date-parts":[[1973,6]]}},"alternative-id":["10.1136\/jmg.10.2.184"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.2.184","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1973,6]]}}}