{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T18:21:31Z","timestamp":1785781291215,"version":"3.56.0"},"reference-count":18,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1972,6]]},"DOI":"10.1136\/jmg.9.2.235","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"235-238","source":"Crossref","is-referenced-by-count":6,"title":["Comparative clinical studies and X chromosome behaviour in a case of XXXX-XXXXX mosaicism."],"prefix":"10.1136","volume":"9","author":[{"given":"P","family":"Cooke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J A","family":"Black","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D J","family":"Curtis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1972,6,1]]},"reference":[{"key":"ref_1","series-title":"Proceedings of the Staff Meetings of the Mavo Clinic","first-page":"242","article-title":"Double autosomal trisomy (D trisomy plus mongolism)","volume":"38","author":"Becker, K.L.; Burke, E.C.; Albert, A.","year":"1963","unstructured":"Becker, K. L., Burke, E. C., and Albert, A. (1963). Double autosomal trisomy (D trisomy plus mongolism). Proceedings of the Staff Meetings of the Mavo Clinic, 38, 242-248."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1136\/jmg.6.3.278","article-title":"Inhibition of the motility of gill cilia of Dreissensia by plasma of cystic fibrosis patients and their parents","volume":"6","author":"Besley, G.T.N.; Patrick, A.D.; Norman, A.P.","year":"1969","unstructured":"Besley, G. T. N., Patrick, A. D., and Norman, A. P. (1969). Inhibition of the motility of gill cilia of Dreissensia by plasma of cystic fibrosis patients and their parents. Journal of Medical Genetics, 6, 278-280.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","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. J'ournal of Medical Genetics, 8, 240-243.","journal-title":"J'ournal of Medical Genetics"},{"key":"ref_4","article-title":"Pathologie comparee des trisomies D et E","author":"Bocquet, L.","year":"1968","unstructured":"Bocquet, L. (1968). Pathologie comparee des trisomies D et E."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1093\/milmed\/134.7.513","article-title":"Abnormal siblings in patients with trisomy 13-15 and 17-18","volume":"134","author":"Campbell, J.B.","year":"1969","unstructured":"Campbell, J. B. (1969). Abnormal siblings in patients with trisomy 13-15 and 17-18. Military Medicine, 134, 513-515.","journal-title":"Military Medicine"},{"key":"ref_6","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, Genetiskt Arkiv, 67, 89-102.","journal-title":"Hereditas, Genetiskt Arkiv"},{"key":"ref_7","first-page":"30","article-title":"In An Introduction to the Cytogenetics of Polyploids","author":"Dawson, G.W.P.","year":"1962","unstructured":"Dawson, G. W. P. (1962). In An Introduction to the Cytogenetics of Polyploids, pp. 30-38. Blackwell Scientific, Oxford."},{"key":"ref_8","first-page":"709","article-title":"The chromosomes in a patient showing both mongolism and the Klinefelter syndrome","volume":"1","year":"1959","unstructured":"Ford, C. E., Jones, K. W., Miller, 0. J., Mittwoch, U., Penrose, L. S., Ridler, M., and Shapiro, A. (1959). The chromosomes in a patient showing both mongolism and the Klinefelter syndrome. Lancet, 1, 709-710.","journal-title":"Lancet"},{"key":"ref_9","first-page":"84","article-title":"Down's Syndrome-A Clinical and Cytogenetical Investigation","author":"Gustavson, K.-H.","year":"1964","unstructured":"Gustavson, K.-H. (1964). Down's Syndrome-A Clinical and Cytogenetical Investigation, pp. 84-88. Institute for Medical Genetics, Uppsala University."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/jmg.5.4.262","article-title":"Incidence of fibrocystic disease in Wessex","volume":"5","author":"Hall, B.D.; Simpkiss, M.J.","year":"1968","unstructured":"Hall, B. D. and Simpkiss, M. J. (1968). Incidence of fibrocystic disease in Wessex. Journal of Medical Genetics, 5, 262-265.","journal-title":"Journal of Medical Genetics"},{"key":"ref_11","first-page":"194207","article-title":"A family showing transmission of a D\/D reciprocal translocation and a case of regular 21 trisomic Down's syndrome","volume":"2","year":"1963","unstructured":"Hamerton, J. L., Gianelli, F., and Carter, C. 0. (1963). A family showing transmission of a D\/D reciprocal translocation and a case of regular 21 trisomic Down's syndrome. Cytogenetics, 2, 194207.","journal-title":"Cytogenetics"},{"key":"ref_12","article-title":"Double aneuploidy: the frequency of XXY in males with Down's syndrome","author":"Hecht, F.; Nievaard, J.E.; Duncanson, N.; Miller, J.R.; Higgins, J.V.; Kimberling, W.J.; Walker, F.A.; Smith, G.S.; Thuline, H.C.; Tischler, B.","year":"1969","unstructured":"Hecht, F., Nievaard, J. E., Duncanson, N., Miller, J. R., Higgins, J. V., Kimberling, W. J., Walker, F. A., Smith, G. S., Thuline, H. C., and Tischler, B. (1969). Double aneuploidy: the frequency of XXY in males with Down's syndrome. American"},{"key":"ref_13","article-title":"Syndrome de Klinefelter XXY a 46 chromosomes, par fusion centromerique","author":"Lejeune, J.; Turpin, R.; Decourt, J.","year":"1960","unstructured":"Lejeune, J., Turpin, R., and Decourt, J. (1960). Syndrome de Klinefelter XXY a 46 chromosomes, par fusion centromerique"},{"key":"ref_14","article-title":"Comparative Clinical Studies and X Chromosome Behaviour in a Case of XXXX\/XXXXX Mosaicism The XXXX sex chromosome complement was first described by Carr, Barr, and Plunkett","volume-title":"in 2 institutionalized, mentally retarded females. Since that time 7 other cases have been reported in detail with a multiple X complement of either XXXX","author":"(Ricci et (Davies,","year":"1961","unstructured":"Comparative Clinical Studies and X Chromosome Behaviour in a Case of XXXX\/XXXXX Mosaicism The XXXX sex chromosome complement was first described by Carr, Barr, and Plunkett (1961) in 2 institutionalized, mentally retarded females. Since that time 7 other cases have been reported in detail with a multiple X complement of either XXXX (de Grouchy et al, 1968; Lejeune and Abonyi, 1968; Berkley and Faed, 1970), XXXXX (Kesaree and Woolley, 1963; Brody, Fitzgerald, and Spiers, 1967), or mosaic form (Ricci et al, 1968). Four other cases of XXXX have been reported without clinical details in surveys of mental subnormality hospitals (Davies, 1963; Day, Larson, and Wright, 1964; Yanagisawa and Shuto, 1970). This paper describes the 2nd case of XXXX\/XXXXX mosaicism and examines the behaviour of the X chromosomes."},{"key":"ref_15","article-title":"Case Report Clinical Features. The patient was the 2nd child of a 33-year-old mother and 33-year-old father; birth weight was 2-5 kg. She was born at term by breech delivery and there was a delay in the onset of respiration. She was originally referred to the Centre for Human Genetics at the age of 3 months because of mental retardation and minor physical malformations. At this time she was a pale and unresponsive child. A loud Received","year":"1971","unstructured":"Case Report Clinical Features. The patient was the 2nd child of a 33-year-old mother and 33-year-old father; birth weight was 2-5 kg. She was born at term by breech delivery and there was a delay in the onset of respiration. She was originally referred to the Centre for Human Genetics at the age of 3 months because of mental retardation and minor physical malformations. At this time she was a pale and unresponsive child. A loud Received 14 September 1971."},{"key":"ref_16","first-page":"83","article-title":"A female with Medical","volume":"7","author":"W.","year":"1970","unstructured":"W. (1970). A female with Medical Genetics, 7, 83-85.","journal-title":"Genetics"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/S0022-3476(67)80172-0","article-title":"A female child with five X chromosomes","volume":"70","author":"Brody, J.; Fitzgerald, M.B.; Spiers, A.S.D.","year":"1967","unstructured":"Brody, J., Fitzgerald, M. B., and Spiers, A. S. D. (1967). A female child with five X chromosomes. Journal of Pediatrics, 70, 105-109.","journal-title":"Journal of Pediatrics"},{"key":"ref_18","article-title":"Triple X Female and a Down's Syndrome Offspring The triple X female has been characterized by the variability of her physical findings (Harnden and Jacobs, 1961; Telfer et al","volume-title":"Less attention has been given to the variability of her mental abilities","author":"Day, Larson; Wright","year":"1970","unstructured":"Triple X Female and a Down's Syndrome Offspring The triple X female has been characterized by the variability of her physical findings (Harnden and Jacobs, 1961; Telfer et al, 1970). Less attention has been given to the variability of her mental abilities (Day, Larson, and Wright, 1964). Most of these females have been purported to have reduced mental abilities. The following report deals with a triple X female who has normal intelligence and who is functioning as a quite adequate housewife and mother. She came under our observation after she produced a child with Down's syndrome (mongolism)."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.9.2.235","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:35:05Z","timestamp":1760733305000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.9.2.235"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1972,6]]},"references-count":18,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1972,6,1]]},"published-print":{"date-parts":[[1972,6]]}},"alternative-id":["10.1136\/jmg.9.2.235"],"URL":"https:\/\/doi.org\/10.1136\/jmg.9.2.235","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1972,6]]}}}