{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:05:40Z","timestamp":1761743140294,"version":"build-2065373602"},"reference-count":20,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,6]]},"abstract":"<jats:p>A liveborn infant with the complement 46,XX\/47,XX, + 14 shared certain features in common with the following previously reported cases: (1) the one previously reported possible case of trisomy 14, (2) cases in which individuals had at least some portion of chromosome No. 14 in triplicate, and (3) cases of atypical D trisomy (Snodgrass category II). The common features include developmental retardation, wide flat nose with bulbous or wide tip, large mouth with turned down corners (some with protruding lips), short neck (some with redundant skin folds), low-set ears, retrognathia, digital anomalies (usually contractions and deviations), palatal anomalies, and cryptorchidism.<\/jats:p>","DOI":"10.1136\/jmg.14.3.214","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"214-218","source":"Crossref","is-referenced-by-count":26,"title":["46,XX\/47XX, + 14 mosaicism in a liveborn infant."],"prefix":"10.1136","volume":"14","author":[{"given":"A O","family":"Martin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M M","family":"Ford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N T","family":"Khalil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K B","family":"Turk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M N","family":"Macintyre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/BF00326943","article-title":"Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence","volume":"13","year":"1971","unstructured":"Aliderdice, P. W., Miller, 0. J., Miller, D. A., Berg, W. R., Gendel, E., and Zelson, C. (1971). Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence. Humangenetik, 13, 205-209.","journal-title":"Humangenetik"},{"key":"ref_2","first-page":"317","article-title":"Chromosome abnormalities and abortion","volume":"4","author":"Boue, A.; Boue, J.","year":"1974","unstructured":"Boue, A., and Boue, J. (1974). Chromosome abnormalities and abortion. Basic Life Sciences, 4 (A), 317-339.","journal-title":"Basic Life Sciences"},{"key":"ref_3","first-page":"201","article-title":"Chromosomes and abortion","volume":"2","author":"Carr, D.H.","year":"1971","unstructured":"Carr, D. H. (1971). Chromosomes and abortion. Advances in Human Genetics, 2, 201-257.","journal-title":"Advances in Human Genetics"},{"key":"ref_4","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.; Lindstein, J.; Zech, L.; Buckton, K.; Price, W.H.","year":"1972","unstructured":"Caspersson, T., Lindstein, J., Zech, L., Buckton, K., 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_5","first-page":"19","article-title":"Structure ofmammalian chromosomes. Basic Life Sciences","volume":"(B),","author":"Comings, D.E.","year":"1974","unstructured":"Comings, D. E. (1974). Structure ofmammalian chromosomes. Basic Life Sciences, 2 (B), 19-28."},{"key":"ref_6","first-page":"71","volume":"24","author":"Fryns, J.P.; Cassiman, J.J.; Van den Berghe, H.","year":"1974","unstructured":"Fryns, J. P., Cassiman, J. J., and Van den Berghe, H. (1974). Tertiary partial 14 trisomy 47,XX,+14q-. Humangenetik, 24, 71-77."},{"key":"ref_7","first-page":"676","article-title":"Functional implications of differential chromosome banding","volume":"27","author":"Hoehn, H.","year":"1975","unstructured":"Hoehn, H. (1975). Functional implications of differential chromosome banding. AmericanJournal ofHuman Genetics, 27, 676-686.","journal-title":"AmericanJournal ofHuman Genetics"},{"key":"ref_8","first-page":"265","article-title":"Trisomy 14 in spontaneous abortus","volume":"15","author":"Kajii, T.; Ohama, K.; Ferrier, A.","year":"1972","unstructured":"Kajii, T., Ohama, K., and Ferrier, A. (1972). Trisomy 14 in spontaneous abortus. Humangenetik, 15, 265-267.","journal-title":"Humangenetik"},{"key":"ref_9","first-page":"539","article-title":"Banding analysis of abnormal karyotypes in spontaneous abortion","volume":"25","author":"Kajii, T.; Ohama, K.; Niikawa, N.; Ferrier, A.; Avirachan, S.","year":"1973","unstructured":"Kajii, T., Ohama, K., Niikawa, N., Ferrier, A., and Avirachan, S. (1973). Banding analysis of abnormal karyotypes in spontaneous abortion. American Journal of Human Genetics, 25, 539-547.","journal-title":"American Journal of Human Genetics"},{"key":"ref_10","first-page":"218","article-title":"Translocation t(14q-; 21q+) chez le p6re, trisomie 14 et monosomie 21 partielles chez la fille","volume":"16","author":"Laurent, C.; Dutrillaux, B.; Biemont, M.Cl; Genoud, J.; Bethenod, M.","year":"1973","unstructured":"Laurent, C., Dutrillaux, B., Biemont, M. Cl., Genoud, J., and Bethenod, M. (1973). Translocation t(14q-;21q+) chez le p6re, trisomie 14 et monosomie 21 partielles chez la fille. Annales de GeneLtique, 16, 218-284.","journal-title":"Annales de GeneLtique"},{"key":"ref_11","article-title":"classified cases ofD trisomy on the basis oftheir craniofacial defects. Those in 'category I' were said to have severe prosencephalic defects, e.g. cleft lip, cleft palate, and ocular anomalies. Those in 'category II' were said to be characterized by a large nose with a broad bridge and a bulbous tip, a long upper lip that overhangs the lower lip, an everted lower lip, a large mouth that turns downward at the corners, 'mild' micrognathia, and loose skin folds in the mandibular and periorbital regions","author":"lSnodgrass","year":"1966","unstructured":"lSnodgrass et al. (1966) classified cases ofD trisomy on the basis oftheir craniofacial defects. Those in 'category I' were said to have severe prosencephalic defects, e.g. cleft lip, cleft palate, and ocular anomalies. Those in 'category II' were said to be characterized by a large nose with a broad bridge and a bulbous tip, a long upper lip that overhangs the lower lip, an everted lower lip, a large mouth that turns downward at the corners, 'mild' micrognathia, and loose skin folds in the mandibular and periorbital regions."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1111\/j.1399-0004.1973.tb01936.x","article-title":"Partial trisomy 14qand pseudoxanthoma elasticum","volume":"4","author":"Muldal, S.; Enoch, B.A.; Ahmed, A.; Harris, R.","year":"1973","unstructured":"Muldal, S., Enoch, B. A., Ahmed, A., and Harris, R. (1973). Partial trisomy 14qand pseudoxanthoma elasticum. Clinical Genetics, 4, 480-489.","journal-title":"Clinical Genetics"},{"key":"ref_13","first-page":"10","article-title":"Trisomie D2 bei einem 21 jahrigen Madchen","volume":"Humangenetik,","author":"Murken, J.D.; Bauchinger, M.; Palitzsch, D.; Pfeifer, H.; Suschke, J.; Haendle, H.","year":"1970","unstructured":"Murken, J. D., Bauchinger, M., Palitzsch, D., Pfeifer, H., Suschke, J., and Haendle, H. (1970). Trisomie D2 bei einem 21 jahrigen Madchen (47,XX,14+). Humangenetik, 10,254-268."},{"year":"1971","author":"Neu, R.L.; Assemany, S.R.; Gardner, L.I.","key":"ref_14","unstructured":"Neu, R. L., Assemany, S. R., and Gardner, L. I. (1971)."},{"key":"ref_15","first-page":"\"179","article-title":"XX,13+ with Snodgrass phenotype II. Are different chromosomes associated with two clinical varieties of D-trisomy?","volume":"8","author":"York. Pfeiffer, R.A.; Buttinghaus, K.; Struck, H.","year":"1971","unstructured":",XX,13+ with Snodgrass phenotype II. Are different chromosomes associated with two clinical varieties of D-trisomy? Journal of Medical Genetics, 8, 179-180. Paris Conference (1971). Standardization in human cytogenetics. Birth Defects: Original Article Series 8 (7), 1972. The National Foundation-March of Dimes, New York. Pfeiffer, R. A., Buttinghaus, K., and Struck, H. (1973). Partial trisomy 14 following a balanced reciprocal translocation t(14q-:21q+). Humangenetik, 20, 187-189.","journal-title":"Journal of Medical Genetics; Birth Defects: Original Article Series 8 (7), 1972. The National Foundation-March of Dimes; Standardization in human cytogenetics"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1136\/jmg.9.3.280","article-title":"Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+; 14q-)","volume":"9","author":"Reiss, J.A.; Wyandt, H.E.; Magenis, R.E.; Lovrien, E.W.; F, Hecht","year":"1972","unstructured":"Reiss, J. A., Wyandt, H. E., Magenis, R. E., Lovrien, E. W., and Hecht F. (1972). Mosaicism with translocation: autoradiographic and fluorescent studies of an inherited reciprocal translocation t(2q+;14q-). Journal of Medical Genetics, 9, 280-286.","journal-title":"Journal of Medical Genetics"},{"key":"ref_17","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_18","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1136\/jmg.9.3.367","article-title":"A case of partial 14 trisomy 47, XY,(14q-)+ and translocation t(9p+; 14q-) in mother and brother","volume":"9","author":"Short, E.M.; Solitare, G.B.; Breg, W.R.","year":"1972","unstructured":"Short, E. M., Solitare, G. B., and Breg, W. R. (1972). A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother. Journal of Medical Genetics, 9, 367-373.","journal-title":"Journal of Medical Genetics"},{"key":"ref_19","first-page":"250","article-title":"Disorders of Sexual Differentiation: Etiology and Clinical Delineation","volume":"41","author":"Simpson, J.L.","year":"1976","unstructured":"Simpson, J. L. (1976). Disorders of Sexual Differentiation: Etiology and Clinical Delineation. Academic Press, New York. Snodgrass, G. J. A. I., Butler, L. J., France, N. E., Crome, L., and Russell, A. (1966). The 'D (13-15) trisomy syndrome: an analysis of 7 examples. Archives of Disease in Childhood, 41, 250-261.","journal-title":"Archives of Disease in Childhood; The 'D (13-15) trisomy syndrome: an analysis of 7 examples"},{"key":"ref_20","first-page":"\"pp. 251","article-title":"Studies on spontaneous abortions. In Chromosome Identification, Nobel","volume":"23","author":"Caspersson, T.","year":"1973","unstructured":"Therkelsen, A. J., Jensen, 0. M., Jonasson, J., Lamm, L. U., Lauritzen, J. G., Lindsten, J., and Petersen, G. B. (1973). Studies on spontaneous abortions. In Chromosome Identification, Nobel Symposium, Vol. 23, pp. 251-255. Ed. by T. Caspersson and L. Zech. Academic Press, New York. Webb, G. C., Garson, 0. M., Robson, M. K., and Pitt, D. B. (1971). A partial D-trisomy\/normal mosaic female. Journal of Medical Genetics, 8, 522-527.","journal-title":"Symposium; A partial D-trisomy\/normal mosaic female"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.3.214","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:22:26Z","timestamp":1760772146000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.3.214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,6]]},"references-count":20,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1977,6,1]]},"published-print":{"date-parts":[[1977,6]]}},"alternative-id":["10.1136\/jmg.14.3.214"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.3.214","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,6]]}}}