{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:10:12Z","timestamp":1760767812869,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1975,9]]},"abstract":"<jats:p>The case is presented of an infant who was diagnosed clinically as trisomy 18 with pseudohermaphroditism. Cytogenetic studies revealed an extra chromosome which represented a translocation chromosome derived from a balanced, reciprocal translocation between chromosomes 16 and 18: [der(18),t(16;18)(p12;q11)mat]. The infant's mother and a number of her relatives were found to be translocation carriers: ]46,XX,t(16;18)(p12;q11)].<\/jats:p>","DOI":"10.1136\/jmg.12.3.305","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"305-307","source":"Crossref","is-referenced-by-count":22,"title":["Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat."],"prefix":"10.1136","volume":"12","author":[{"given":"L M","family":"Stern","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A R","family":"Mureh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1975,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1136\/jmg.10.3.296","article-title":"A new case of trisomy for the short arm of No","volume":"9","author":"Baccichetti, C.; Tenconi, R.","year":"1973","unstructured":"Baccichetti, C. and Tenconi, R. (1973). A new case of trisomy for the short arm of No. 9 chromosome. Journal of Medical Genetics, 10, 296-299.","journal-title":"Journal of Medical Genetics; chromosome"},{"key":"ref_2","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_3","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/BF00702772","article-title":"Presumed trisomy for the short arm of chromosome No","volume":"12","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.","journal-title":"Humangenetik"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/BF00291480","article-title":"Analyse de la trisomie 9p par ddnaturation m&nag6e. A propos d'un nouveau cas","volume":"18","author":"Rethord, M.O.; Hoehn, H.; Rott, H.D.; Couturier, J.; Dutrillaux, B.; Lejeune, J.","year":"1973","unstructured":"Rethord, M. O., Hoehn, H., Rott, H. D., Couturier, J., Dutrillaux, B., and Lejeune, J. (1973). Analyse de la trisomie 9p par ddnaturation m&nag6e. A propos d'un nouveau cas. Humangenetik, 18, 129-138.","journal-title":"Humangenetik"},{"key":"ref_5","first-page":"13","article-title":"Sur quatre cas de trisomie pour le bras court du chromosome 9. Individualisation d'une nouvelle entite morbide. Annales de Ginitique","year":"1971","unstructured":"Rethord, M. O., Larget-Piet, L., Abonyi, D., Boeswillwald, M.,. Berger, R., Carpentier, S., Cruveiller, J., Dutrillaux, B., Lafourcade, J., Penneau, M., and Lejeune, J. (1971). Sur quatre cas de trisomie pour le bras court du chromosome 9. Individualisation d'une nouvelle entite morbide. Annales de Ginitique, 13,217-232."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/BF00438972","article-title":"Partielle Trisomie Cq bei balancierter B4\/C9-Translokation bei der Mutter","volume":"109","author":"Rott, H.D.; Schwanitz, G.; Grosse, K.P.","year":"1971","unstructured":"Rott, H. D., Schwanitz, G., and Grosse, K. P. (1971). Partielle Trisomie Cq bei balancierter B4\/C9-Translokation bei der Mutter. Zeitschrift fir Kinderheilkunde, 109, 293-299.","journal-title":"Zeitschrift fir Kinderheilkunde"},{"article-title":"The trisomy 18 syndrome has a number of typical clinical features. Many organs are affected with a varying degree of frequency; the abnormalities have however been fairly constant in large series of cases (Warkany et al, 1966). A number of genital abnormalities have been described, but to our knowledge no case of pseudohermaphroditism has been previously described, nor can we find any previous reports of the trisomic chromosome being a translocation chromosome involving chromosomes 16 and 18. Received 12","year":"1974","key":"ref_7","unstructured":"The trisomy 18 syndrome has a number of typical clinical features. Many organs are affected with a varying degree of frequency; the abnormalities have however been fairly constant in large series of cases (Warkany et al, 1966). A number of genital abnormalities have been described, but to our knowledge no case of pseudohermaphroditism has been previously described, nor can we find any previous reports of the trisomic chromosome being a translocation chromosome involving chromosomes 16 and 18. Received 12 July 1974."},{"key":"ref_8","article-title":"Case report This was the first child of young parents, the mother being 26 years and the father 29 years. The mother had not had any previous miscarriages. The only drug taken during pregnancy was ferrous sulphate and she had not had any irradiation. Polyhydramnios was not recorded during the pregnancy. Oestriol levels were monitored from the 29th week of gestation because of small fetal size for period of gestation. The levels were below normal until the 34th week when the level was just within the normal range. Spontaneous premature labour occurred at 351 weeks. Delivery was uneventful and the baby's Apgar was 4","volume-title":"The umbilical cord had one artery and one vein. The placenta weighed 370 g. and was described as 'healthy","author":"g","unstructured":"Case report This was the first child of young parents, the mother being 26 years and the father 29 years. The mother had not had any previous miscarriages. The only drug taken during pregnancy was ferrous sulphate and she had not had any irradiation. Polyhydramnios was not recorded during the pregnancy. Oestriol levels were monitored from the 29th week of gestation because of small fetal size for period of gestation. The levels were below normal until the 34th week when the level was just within the normal range. Spontaneous premature labour occurred at 351 weeks. Delivery was uneventful and the baby's Apgar was 4 at 1 min and 8 at 4 min. Birth weight was 1700 g. The umbilical cord had one artery and one vein. The placenta weighed 370 g. and was described as 'healthy'."},{"key":"ref_9","article-title":"were sex chromatin negative. Karyotypes were performed on the infant, the parents and the available maternal relatives. Blood cultures were performed on peripheral leucocytes using a modification of the method of Moorhead et","volume-title":"G-bands were produced using a trypsin technique modified from Seabright","author":"al","year":"1960","unstructured":"were sex chromatin negative. Karyotypes were performed on the infant, the parents and the available maternal relatives. Blood cultures were performed on peripheral leucocytes using a modification of the method of Moorhead et al (1960). G-bands were produced using a trypsin technique modified from Seabright (1971). The father's karyotype was normal. All the infant's cells examined revealed a male karyotype with 47 chromosomes, the extra chromosome being a metacentric, smaller than a G-group chromosome. G-banding showed the metacentric chromosome to have a dark staining centromere with symmetrically light staining arms (Fig. 2). The mother's karyotype showed an Subject II.5 III.8 III.7 IV.4"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparations of leucocytes 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 leucocytes cultured from human peripheral blood. Experimental Cell Research, 20, 613-616.","journal-title":"Experimental Cell Research"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1098\/rstb.1970.0058","article-title":"Hormonal and clinical aspects of hermaphroditism and the testicular feminizing syndrome in man","volume":"259","author":"Polani, P.E.","year":"1970","unstructured":"Polani, P. E. (1970). Hormonal and clinical aspects of hermaphroditism and the testicular feminizing syndrome in man. Philosophical Transactions of the Royal Society of London. Series B, 259, 187-204.","journal-title":"Philosophical Transactions of the Royal Society of London. Series B"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosomes","volume":"2","author":"Seabright, M.","year":"1971","unstructured":"Seabright, M. (1971). A rapid banding technique for human chromosomes. Lancet, 2, 971-972.","journal-title":"Lancet"},{"key":"ref_13","first-page":"638","article-title":"In Endocrine and Genetic Diseases of Childhood","author":"Smith, D.W.","year":"1969","unstructured":"Smith, D. W. (1969). In Endocrine and Genetic Diseases of Childhood, ed. by L. I. Gardner, pp. 638-645. W. B. Saunders: Philadelphia."},{"key":"ref_14","first-page":"588","article-title":"The dermal patterns of the new autosomal trisomy syndromes","volume":"102","author":"Uchida, I.A.; Patau, K.; Smith, D.W.","year":"1961","unstructured":"Uchida, I. A., Patau, K., and Smith, D. W. (1961). The dermal patterns of the new autosomal trisomy syndromes. American Journal of Diseases of Children, 102, 588.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_15","first-page":"502","article-title":"Congenital malformations in autosomal trisomy syndromes","volume":"112","author":"Warkany, J.; Passarge, E.; Smith, L.B.","year":"1966","unstructured":"Warkany, J., Passarge, E., and Smith, L. B. (1966). Congenital malformations in autosomal trisomy syndromes. American Journal of Diseases of Children, 112, 502-517.","journal-title":"American Journal of Diseases of Children"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.3.305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:41:14Z","timestamp":1760766074000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.3.305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,9]]},"references-count":15,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1975,9,1]]},"published-print":{"date-parts":[[1975,9]]}},"alternative-id":["10.1136\/jmg.12.3.305"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.3.305","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1975,9]]}}}