{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:10:13Z","timestamp":1760764213583,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1973,12]]},"abstract":"<jats:p>A case of a female infant with malformations of upper extremities and mental and growth retardation is reported.<\/jats:p>\n               <jats:p>The karyotype showed a 46,XX,t(Bq+;Dq\u2212)\/45,XX,\u2212B,\u2212D,+der(B),t(Bq+;Dq\u2212) mosaicism. The clinical findings in relation to the long arm deletion of a B-group chromosome are discussed.<\/jats:p>","DOI":"10.1136\/jmg.10.4.376","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"376-379","source":"Crossref","is-referenced-by-count":0,"title":["A Child with Multiple Congenital Malformations and a 46,XX,t(Bq+;Dq\u2212)\/45,XX,\u2212B, \u2212D, + der(B),t(Bq+;Dq\u2212) Karyotype"],"prefix":"10.1136","volume":"10","author":[{"given":"Alessandra","family":"Carnevale","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis De Los","family":"Cobos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1973,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1136\/jmg.8.2.235","article-title":"A complex chromosomal rearrangement with formation of a ring 4","volume":"8","author":"Bobrow, M.; Jones, L.F.; Clarke, G.","year":"1971","unstructured":"Bobrow, M., Jones, L. F. and Clarke, G. (1971). A complex chromosomal rearrangement with formation of a ring 4. Journal of Medical Genetics, 8, 235-239.","journal-title":"Journal of Medical Genetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1136\/jmg.8.2.240","article-title":"The use of quinacrine fluorescence in the identification of B and E group chromosomes involved in structural abnormalities","volume":"8","author":"Bobrow, M.; Pearson, P.L.","year":"1971","unstructured":"Bobrow, M. and Pearson, P. L. (1971). The use of quinacrine fluorescence in the identification of B and E group chromosomes involved in structural abnormalities. Journal of Medical Genetics, 8, 240-243.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","first-page":"224","article-title":"Congenital malformations associated with a ring 4 chromosome","volume-title":"J7ournal of Medical Genetics","volume":"6","author":"Carter, R.; Baker, E.; Hayman, D.","year":"1969","unstructured":"Carter, R., Baker, E., and Hayman, D. (1969). Congenital malformations associated with a ring 4 chromosome. J7ournal of Medical Genetics, 6, 224-227."},{"issue":"5","key":"ref_4","first-page":"\"pp. 114","article-title":"A ring B chromosome in a female with multiple skeletal abnormalities. In Birth Defects: Original Article","volume":"5","author":"Dallaire, L.","year":"1969","unstructured":"Dallaire, L. (1969). A ring B chromosome in a female with multiple skeletal abnormalities. In Birth Defects: Original Article Series, 5, pt. 5, pp. 114-116. The National Foundation-March of Dimes, New York. Faed, M., Stewart, A., and Keay, A. J. (1969). Chromosome abnormalities in two cases with bilateral radial element defects. J'ournal of Medical Genetics, 6, 342-346.","journal-title":"Series; The National Foundation-March of Dimes"},{"issue":"5","key":"ref_5","first-page":"106","article-title":"Ring-4 chromosome: ring autosomes, Lorelei of clinical-karyotype correlation and deletion mapping. In Birth Defects: Original Article","volume":"5","author":"Hecht, F.","year":"1969","unstructured":"Hecht, F. (1969). Ring-4 chromosome: ring autosomes, Lorelei of clinical-karyotype correlation and deletion mapping. In Birth Defects: Original Article Series, 5, pt. 5, pp. 106-113. The National Foundation-March of Dimes, New York. Lindenbaum, R. H.","journal-title":"Series; The National Foundation-March of Dimes"},{"key":"ref_6","first-page":"46","article-title":"Child with multiple anomalies and a group B(4-5) long arm deletion (Bq-)","author":"Hecht, F.; Butler, L.J.","year":"1971","unstructured":"Hecht, F. and Butler, L. J. (1971). Child with multiple anomalies and a group B(4-5) long arm deletion (Bq-). Archives of Disease in Childhood, 46,99-101.","journal-title":"Archives of Disease in Childhood"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1136\/adc.42.224.428","article-title":"A large deletion of the long arms of chromosome No. 4 in a child with limb abnormalities","volume":"42","author":"Ockey, C.H.; Feldman, G.V.; Macaulay, M.E.; Delaney, M.J.","year":"1967","unstructured":"Ockey, C. H., Feldman, G. V., Macaulay, M. E., and Delaney, M. J. (1967). A large deletion of the long arms of chromosome No. 4 in a child with limb abnormalities. Archives of Disease in Childhood, 42, 428-434.","journal-title":"Archives of Disease in Childhood"},{"key":"ref_8","article-title":"Holt-Oram syndrome associated with ectromelia and chromosomal aberrations","author":"Rybak, M.; Kozlowski, K.; Kleczkowska, A.; Lewandowska, J.; Sckolowski, J.; Soltysik-Wilk, E.","year":"1971","unstructured":"Rybak, M., Kozlowski, K., Kleczkowska, A., Lewandowska, J., Sckolowski, J., and Soltysik-Wilk, E. (1971). Holt-Oram syndrome associated with ectromelia and chromosomal aberrations."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1159\/000129917","article-title":"A B-group ring chromosome with mosaicism in a newborn with 'cri du chat' syndrome","volume":"5","author":"Steele, M.W.; Breg, W.R.; Eidelman, A.I.; Lion, D.T.; Terzakis, T.A.","year":"1966","unstructured":"Steele, M. W., Breg, W. R., Eidelman, A. I., Lion, D. T., and Terzakis, T. A. (1966). A B-group ring chromosome with mosaicism in a newborn with 'cri du chat' syndrome. Cytogenetics, 5, 419-429.","journal-title":"Cytogenetics"},{"key":"ref_10","first-page":"8","article-title":"A ring 4 chromosome in a patient with normal intelligence and short stature","volume-title":"J7ournal of Medical Genetics","author":"Surana, R.B.; Bailey, J.D.; Conen, P.E.","year":"1971","unstructured":"Surana, R. B., Bailey, J. D., and Conen, P. E. (1971). A ring 4 chromosome in a patient with normal intelligence and short stature. J7ournal of Medical Genetics, 8,517-521."},{"key":"ref_11","first-page":"pro","article-title":"A small extra chromosome has been linked to two specific syndromes","author":"Schachenmann et al; Weber, Dooley; Sparkes","year":"1965","unstructured":"A small extra chromosome has been linked to two specific syndromes. Schachenmann et al (1965), Weber, Dooley, and Sparkes (1970), and Gerald et al (1968) described anal atresia, vertical colobomata of the iris, bilateral preauricular fistulas, and other congenital defects in a condition called 'the cat eye syndrome'. Abbo and Zellweger (1970) pro-","journal-title":"and Gerald et al; described anal atresia, vertical colobomata of the iris, bilateral preauricular fistulas, and other congenital defects in a condition called 'the cat eye syndrome"},{"key":"ref_12","series-title":"on five unrelated patients with a small metacentric extra chromosome and pointed out that it is difficult to assess the clinical significance of a karyotype containing a small extra chromosome member. In two of these patients no serious clinical problems were noted whereas in the remaining three the multiple congenital abnormalities were neither striking nor fitting the descriptions of the above two syndromes. Since there are several possible mechanisms by which the extra chromosome material can arise it is possible that the extra chromosome has a different origin in each case","article-title":"posed a syndrome under the noncommittal name 'the syndrome of the (supernumerary) metacentric chromosome' with characteristics including severe mental retardation, irritability and even destructiveness, muscular hypotonia, retinal coloboma, and other constitutional stigmata","author":"We; reported (Borgaonkar, Schimke; Thomas","year":"1971","unstructured":"posed a syndrome under the noncommittal name 'the syndrome of the (supernumerary) metacentric chromosome' with characteristics including severe mental retardation, irritability and even destructiveness, muscular hypotonia, retinal coloboma, and other constitutional stigmata. We reported (Borgaonkar, Schimke, and Thomas, 1971b) on five unrelated patients with a small metacentric extra chromosome and pointed out that it is difficult to assess the clinical significance of a karyotype containing a small extra chromosome member. In two of these patients no serious clinical problems were noted whereas in the remaining three the multiple congenital abnormalities were neither striking nor fitting the descriptions of the above two syndromes. Since there are several possible mechanisms by which the extra chromosome material can arise it is possible that the extra chromosome has a different origin in each case."},{"issue":"28","key":"ref_13","first-page":"a","article-title":"white male, born on","volume-title":"was the product of an uneventful second pregnancy. Development was rather unremarkable; he had walked at 16 months, his teeth were normal, and he spoke a few words. Genitalia were normal and no abnormalities","volume":"89","author":"C, C.","year":"1967","unstructured":"C. C. (JHH 131 89 28), a white male, born on 27 May 1967, was the product of an uneventful second pregnancy. Development was rather unremarkable; he had walked at 16 months, his teeth were normal, and he spoke a few words. Genitalia were normal and no abnormalities"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.4.376","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:51:33Z","timestamp":1760763093000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.4.376"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,12]]},"references-count":13,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1973,12,1]]},"published-print":{"date-parts":[[1973,12]]}},"alternative-id":["10.1136\/jmg.10.4.376"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.4.376","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1973,12]]}}}