{"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":1770997998502,"version":"3.50.1"},"reference-count":22,"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>A nine-year-old male with developmental abnormalities was found to be mosaic for an extra No. 9 chromosome (46,XY\/47,XY,+9). The clinical findings included severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition with a ventricular septal defect, and patent ductus arteriosus, as well as significant abnormalities of the brain.<\/jats:p>","DOI":"10.1136\/jmg.10.2.180","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"180-184","source":"Crossref","is-referenced-by-count":54,"title":["Trisomy 9 Mosaicism with Multiple Congenital Anomalies"],"prefix":"10.1136","volume":"10","author":[{"given":"Robert H. A.","family":"Haslam","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stuart P.","family":"Broske","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charleen M.","family":"Moore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George H.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine A.","family":"Neill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1973,6,1]]},"reference":[{"key":"ref_1","first-page":"13","article-title":"Trisomy C mosaicism in a seven","volume":"4","author":"Bargman, G.J.; Neu, R.L.; Kajii, T.; Leao, J.C.; Gardner, L.I.","year":"1967","unstructured":"Bargman, G. J., Neu, R. L., Kajii, T., Leao, J. C., and Gardner, L. I. (1967). Trisomy C mosaicism in a seven month old girl. Humangenetik, 4, 13-17."},{"key":"ref_2","article-title":"Four patients with trisomy 8 identified by the fluorescence and giemsa banding techniques. Journal of Medical involvement of different C-group chromosomes, diverse degrees of mosaicism, and differences in in-","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 involvement of different C-group chromosomes, diverse degrees of mosaicism, and differences in in-"},{"key":"ref_3","article-title":"Identification of human chromosomes by DNA-binding fluoresvolved tissues (Gustavson et al","volume-title":"Caspersson et al","author":"Caspersson, T.; Zech, L.; Johansson, C.; Modest, E.J.","year":"1970","unstructured":"Caspersson, T., Zech, L., Johansson, C., and Modest, E. J. (1970). Identification of human chromosomes by DNA-binding fluoresvolved tissues (Gustavson et al, 1967; Caspersson et al, 1972). With the advent of new identification techniques (Caspersson et al, 1970), it is possible to eliminate one of these variables, namely, the identity of the extra chromosome."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1111\/j.1600-0609.1970.tb01877.x","article-title":"Apparent C trisomy in bone marrow cells, report of two cases","volume":"7","author":"Chapelle, A.de la; Wennstrom, J.; Wasastjerna, C.; Knutar, F.; Stenman, U.-H.; Weber, T.H.","year":"1970","unstructured":"Chapelle, A. de la, Wennstrom, J., Wasastjerna, C., Knutar, F., Stenman, U.-H., and Weber, T. H. (1970). Apparent C trisomy in bone marrow cells, report of two cases. Scandinavian Journal of Haematology, 7, 112-122.","journal-title":"Scandinavian Journal of Haematology"},{"key":"ref_5","article-title":"Etude en fluorescence d'une trisomie C mosaique probablement","author":"De Grouchy, J.; Turleau, C.; Leonard, C.","year":"1971","unstructured":"De Grouchy, J., Turleau, C., and Leonard, C. (1971). Etude en fluorescence d'une trisomie C mosaique probablement 8:46,XY\/"},{"key":"ref_6","first-page":"\"+.\" # \"69","article-title":"Possible trisomy in chromosome group 6-12 in a mentally retarded patient","volume":"8","author":"X.Y.","year":"1963","unstructured":",XY, ?8 +. Annales de Genetique, 14, 69-72. El-Alfi, 0. S., Powell, H. C., and Biesele, J. J. (1963). Possible trisomy in chromosome group 6-12 in a mentally retarded patient.","journal-title":"Annales de Genetique"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1111\/j.1651-2227.1967.tb15996.x","article-title":"Mosaic trisomy of an autosome in the 6-12 group in a patient with multiple be the case is suggested by the recent description of congenital anomalies","volume":"56","author":"Gustavson, K.-H.; Hagberg, B.; Santesson, B.","year":"1967","unstructured":"Gustavson, K.-H., Hagberg, B., and Santesson, B. (1967). Mosaic trisomy of an autosome in the 6-12 group in a patient with multiple be the case is suggested by the recent description of congenital anomalies. Acta Paediatrica Scandinavica, 56, 681-","journal-title":"Acta Paediatrica Scandinavica"},{"key":"ref_8","article-title":"and perhaps five patients","author":"least four (Caspersson","year":"1972","unstructured":"at least four (Caspersson et al, 1972) and perhaps five patients with trisomy 8 (de Grouchy, Turleau, and"},{"key":"ref_9","article-title":"Two cases of trisomy C6-12 mosaicism with multiple congenital Leonard","author":"Higurashi, M.; Naganuma, M.; Matsui, I.; Kamoshita, S.","year":"1969","unstructured":"Higurashi, M., Naganuma, M., Matsui, I., and Kamoshita, S. (1969). Two cases of trisomy C6-12 mosaicism with multiple congenital Leonard, 1971)."},{"key":"ref_10","first-page":"429","article-title":"The patient described herein is believed to be mosaic for trisomy 9. The outstanding anomalies include severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition of the heart with a ventricular septal defect and patent ductus arteriosus with evidence of bidirectional shunting, malformations","volume":"6","unstructured":"The patient described herein is believed to be mosaic for trisomy 9. The outstanding anomalies include severe mental retardation, peculiar facies, short stature, hypotonia, dextroposition of the heart with a ventricular septal defect and patent ductus arteriosus with evidence of bidirectional shunting, malformations. Journal of Medical Genetics, 6, 429-434.","journal-title":"Journal of Medical Genetics"},{"key":"ref_11","first-page":"1183","article-title":"Cytogenetic studies in primary amenorrhoea","volume":"1","author":"Jacobs, P.A.; Harnden, D.G.; Buckton, K.E.; Court Brown, W.M.; King, M.J.; McBride, J.A.; MacGregor, T.N.; Maclean, N.; Fotheringham, A.; Isdale, M.","year":"1961","unstructured":"Jacobs, P. A., Harnden, D. G., Buckton, K. E., Court Brown, W. M., King, M. J., McBride, J. A., MacGregor, T. N., Maclean, N., Fotheringham, A., and Isdale, M. (1961). Cytogenetic studies in primary amenorrhoea. Lancet, 1, 1183-1188.","journal-title":"Lancet"},{"key":"ref_12","first-page":"109","article-title":"Un nouveau cas de trisomie presumee 6-12","volume":"9","author":"Jalbert, P.; Jobert, J.; Patet, J.; Mouriquand, C.; Roget, J.","year":"1966","unstructured":"Jalbert, P., Jobert, J., Patet, J., Mouriquand, C., and Roget, J. (1966). Un nouveau cas de trisomie presumee 6-12. Annales de Genetique, 9, 109-112.","journal-title":"Annales de Genetique"},{"key":"ref_13","article-title":"Trisomy C in an infant with polycystic kidneys and other malformations","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."},{"key":"ref_14","first-page":"275","article-title":"Cytogenetic investigation of spontaneous abortions","volume":"12","author":"Kuliev, A.M.","year":"1971","unstructured":"Kuliev, A. M. (1971). Cytogenetic investigation of spontaneous abortions. Humangenetik, 12, 275-283.","journal-title":"Humangenetik"},{"key":"ref_15","article-title":"Developmental abnormalities associated with a ring chromosome","volume-title":"6. J7ournal of Medical Genetics","volume":"10","author":"Moore, C.M.; Heller, R.H.; Thomas, G.H.","year":"1973","unstructured":"Moore, C. M., Heller, R. H., and Thomas, G. H. (1973). Developmental abnormalities associated with a ring chromosome 6. J7ournal of Medical Genetics, 10. (In press.)"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparations of leukocytes cultured from human peripheral blood","volume":"20","author":"Moorhead, P.S.; Nowell, P.C.; Mellman, W.J.; Battips, D.M.; Hungerford, D.A.","year":"1960","unstructured":"Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., and Hungerford, D. A. (1960). Chromosome preparations of leukocytes cultured from human peripheral blood. Experimental Cell Research, 20, 613-616.","journal-title":"Experimental Cell Research"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/S0022-3476(70)80210-4","article-title":"Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism","volume":"77","author":"Riccardi, V.M.; Atkins, L.; Holmes, L.B.","year":"1970","unstructured":"Riccardi, V. M., Atkins, L., and Holmes, L. B. (1970). Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism. Journal of Pediatrics, 77, 664-672.","journal-title":"Journal of Pediatrics"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1016\/S0140-6736(63)91965-2","article-title":"Possible trisomy in chromosome group 6-12","volume":"1","author":"Stalder, G.R.; Buhler, E.M.; Weber, J.R.","year":"1963","unstructured":"Stalder, G. R., Buhler, E. M., and Weber, J. R. (1963). Possible trisomy in chromosome group 6-12. Lancet, 1, 1379.","journal-title":"Lancet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/S0140-6736(64)90382-4","article-title":"Possible trisomy in chromosome group 6-12 in a normal woman","volume":"2","author":"Stolte, L.; Evers, J.; Blankenborg, G.","year":"1964","unstructured":"Stolte, L., Evers, J., and Blankenborg, G. (1964). Possible trisomy in chromosome group 6-12 in a normal woman Lancet, 2., 480-481.","journal-title":"Lancet"},{"key":"ref_20","article-title":"Mucolipidosis 111 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells. Clinical Genetics","author":"Taylor, H.A.; Thomas, G.H.; Miller, C.S.; Kelley, T.E.; Siggers, D.","year":"1973","unstructured":"Taylor, H. A., Thomas, G. H., Miller, C. S., Kelley, T. E., and Siggers, D. (1973). Mucolipidosis 111 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells. Clinical Genetics. (In press.)"},{"key":"ref_21","first-page":"686","volume":"1","author":"Wolf, U.; Reinwein, H.","year":"1965","unstructured":"Wolf, U. and Reinwein, H. (1965). Chromosomenmosaik Ctrisomie\/normal. Humangenetik, 1, 686-687.","journal-title":"Chromosomenmosaik Ctrisomie\/normal. Humangenetik"},{"key":"ref_22","article-title":"A male infant was admitted to the Boston Floating Hospital for Infants and Children at the age of 2 days because of multiple congenital anomalies. He was the product of a 40-week gestation of a normal 24-year-old gravida 2, para 2, female and a 25-year-old male. Birth weight was 3218 g. During the first and second trimesters the mother had severe nausea with vomiting as well as vaginal spotting, bronchitis, and sinusitis. There was no known exposure to irradiation or infectious diseases. During the pregnancy the mother received the following medications: Erythromycin, Percogesic Received","year":"1973","unstructured":"A male infant was admitted to the Boston Floating Hospital for Infants and Children at the age of 2 days because of multiple congenital anomalies. He was the product of a 40-week gestation of a normal 24-year-old gravida 2, para 2, female and a 25-year-old male. Birth weight was 3218 g. During the first and second trimesters the mother had severe nausea with vomiting as well as vaginal spotting, bronchitis, and sinusitis. There was no known exposure to irradiation or infectious diseases. During the pregnancy the mother received the following medications: Erythromycin, Percogesic Received 17 January 1973."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.2.180","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:54:37Z","timestamp":1759686877000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.2.180"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,6]]},"references-count":22,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1973,6,1]]},"published-print":{"date-parts":[[1973,6]]}},"alternative-id":["10.1136\/jmg.10.2.180"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.2.180","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1973,6]]}}}