{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T21:42:13Z","timestamp":1766266933702,"version":"build-2065373602"},"reference-count":28,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1970,6]]},"DOI":"10.1136\/jmg.7.2.132","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:49:07Z","timestamp":1226328547000},"page":"132-137","source":"Crossref","is-referenced-by-count":9,"title":["Trisomy 13 syndrome in Chinese infants. Clinical findings and incidence."],"prefix":"10.1136","volume":"7","author":[{"given":"F C","family":"Yu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L T","family":"Gutman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S W","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J W","family":"Fresh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Emanuel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1970,6,1]]},"reference":[{"key":"ref_1","article-title":"These genital abnormalities in children with an excess of chromosome 13 suggest the possibility that","year":"1964","unstructured":"These genital abnormalities in children with an excess of chromosome 13 suggest the possibility that Smith (1964) Conen and Erkman","journal-title":"Smith; Conen and Erkman"},{"article-title":"These genital abnormalities in children with an excess of chromosome 13 suggest","year":"1966","key":"ref_2","unstructured":"These genital abnormalities in children with an excess of chromosome 13 suggest the possibility that Smith (1966)"},{"key":"ref_3","article-title":"has reviewed the * Twins counted as one case. evidence that in other animal species, autosomal","author":"Strand","year":"1965","unstructured":"Strand, 1965). Hamerton (1968) has reviewed the * Twins counted as one case. evidence that in other animal species, autosomal t Unpublished observations, cited in Taylor (1968)."},{"key":"ref_4","series-title":"unpublished observations; Taylor and Fraser Roberts","first-page":"and","article-title":"independently reported that the level of Hb F was abnormally high in young infants with the trisomy 13 syndrome. In English series, and is not significantly different from the other English, Canadian, and American series","author":"Huehns; associates","year":"1964","unstructured":"Huehns and associates (1964) and Powars, Rohde, and Graves (1964) independently reported that the level of Hb F was abnormally high in young infants with the trisomy 13 syndrome. In English series, and is not significantly different from the other English, Canadian, and American series (Smith, 1964; Conen and Erkman, 1966; A. I. Taylor, unpublished observations; Taylor and Fraser Roberts, unpublished observations, cited in Taylor (1968)) (X2 for Poisson distribution = 0 3217, 07<p> 05)."},{"key":"ref_5","article-title":"noted the presence of other haemoglobins","author":"addition, Huehns; co-workers","year":"1964","unstructured":"addition, Huehns and co-workers (1964) noted the presence of other haemoglobins (Hb-Gower 2 and"},{"key":"ref_6","article-title":"Hb-y4) in the newborn with this syndrome. Hb F This paper describes four cases of trisomy 13 was found to be abnormally high in the three tested syndrome in Chinese infants. Two cases occurred cases, and Hb-y4 in one (Case 1), but no Hb-Gower 2 was detected. Huehns suggested that the increases in Hb-y4, Hb F, and Hb-Gower 2 could all be interpreted as a specific retardation of normal maturational changes seen with these haemoglobins","year":"1966","unstructured":"Hb-y4) in the newborn with this syndrome. Hb F This paper describes four cases of trisomy 13 was found to be abnormally high in the three tested syndrome in Chinese infants. Two cases occurred cases, and Hb-y4 in one (Case 1), but no Hb-Gower 2 was detected. Huehns suggested that the increases in Hb-y4, Hb F, and Hb-Gower 2 could all be interpreted as a specific retardation of normal maturational changes seen with these haemoglobins. Walzer et al. (1966) suggested that since both Hb F and Hb-y4 contain y-chains, an increase in Hb F is evidence of an increase in y-chain production. This, in turn, might result in the presence of increased amounts of Hb-y4.","journal-title":"Walzer et al; suggested that since both Hb F and Hb-y4 contain y-chains, an increase in Hb F is evidence of an increase in y-chain production. This, in turn, might result in the presence of increased amounts of Hb-y4"},{"key":"ref_7","article-title":"In pooled U. S. data, 31 of 221 known cases of trisomy 13 syndrome had translocations (Magenis","author":"Hecht","year":"1968","unstructured":"In pooled U.S. data, 31 of 221 known cases of trisomy 13 syndrome had translocations (Magenis et al., 1968; Hecht et al., 1966). Of these","journal-title":"et al"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1159\/000129767","article-title":"Microtechnique for culturing leukocytes from whole blood","volume":"2","author":"Arakaki, D.T.; Sparkes, R.S.","year":"1963","unstructured":"Arakaki, D. T., and Sparkes, R. S. (1963). Microtechnique for culturing leukocytes from whole blood. Cytogenetics, 2, 57-60.","journal-title":"Cytogenetics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1530\/acta.0.0480490","article-title":"Contribution to the study of the so-called pure gonadal dysgenesis","volume":"48","author":"Brogger, A.; Strand, A.","year":"1965","unstructured":"Brogger, A., and Strand, A. (1965). Contribution to the study of the so-called pure gonadal dysgenesis. Acta Endocrinologica (Copenhagen), 48, 490-505.","journal-title":"Acta Endocrinologica (Copenhagen)"},{"key":"ref_10","first-page":"374","article-title":"Frequency and occurrence of chromosomal syndromes","volume":"18","author":"Conen, P.E.; Erkman, B.","year":"1966","unstructured":"Conen, P. E., and Erkman, B. (1966). Frequency and occurrence of chromosomal syndromes. I. D-trisomy. American Journal of Human Genetics, 18, 374-386.","journal-title":"I. D-trisomy. American Journal of Human Genetics"},{"key":"ref_11","first-page":"105","article-title":"Trisomy 17\/18 and trisomy 13\/15 in the African child","volume":"71","author":"Cornu, G.; Lintermans, J.P.; van den Berghe, H.; Eeckls, R.","year":"1968","unstructured":"Cornu, G., Lintermans, J. P., van den Berghe, H., and Eeckls, R. (1968). Trisomy 17\/18 and trisomy 13\/15 in the African child. 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Annales de Genetique. 9, 155-159.","journal-title":"Annales de Genetique"},{"key":"ref_14","first-page":"147","article-title":"A cytogenetic study of 77 Chinese children with Down's syndrome","volume":"11","author":"Huang, S.W.; Emanuel, I.; Lo, J.; Liao, S.K.; Hsu, C.C.","year":"1967","unstructured":"Huang, S. W., Emanuel, I., Lo, J., Liao, S. K., and Hsu, C. C. (1967). A cytogenetic study of 77 Chinese children with Down's syndrome. Journal of Mental Deficiency Research, 11, 147-152.","journal-title":"Journal of Mental Deficiency Research"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1073\/pnas.51.1.89","article-title":"Developmental hemoglobin anomalies in a chromosomal triplication. DI trisomy syndrome","volume":"51","author":"Huehns, E.R.; Hecht, F.; Keil, J.V.; Motulsky, A.G.","year":"1964","unstructured":"Huehns, E. R., Hecht, F., Keil, J. V., and Motulsky, A. G. (1964). Developmental hemoglobin anomalies in a chromosomal triplication. DI trisomy syndrome. Proceedings of the National Academy of Sciences of the United States of America, 51, 89-97.","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"ref_16","first-page":"22","article-title":"A case of D1 trisomy syndrome","author":"Konishi, S.; Umeda, M.; Kawamura, J.; Yanagisawa, S.; Iuchi, I.; Nakajima, K.","year":"1966","unstructured":"Konishi, S., Umeda, M., Kawamura, J., Yanagisawa, S., Iuchi, I., and Nakajima, K. (1966). A case of D1 trisomy syndrome. Acta Pediatrica Japonica (overseas edition), 8, 22.","journal-title":"Acta Pediatrica Japonica"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/S0022-3476(68)80072-1","article-title":"Trisomy 13 (DI) syndrome: Studies on parental age, sex ratio and survival","volume":"73","author":"Magenis, R.E.; Hecht, F.; Milham, S.","year":"1968","unstructured":"Magenis, R. E., Hecht, F., and Milham, S. (1968). Trisomy 13 (DI) syndrome: Studies on parental age, sex ratio and survival. Journal of Pediatrics, 73, 222-228.","journal-title":"Journal of Pediatrics"},{"key":"ref_18","first-page":"213","article-title":"D1 trisomy syndrome (a case report)","volume":"13","author":"Nair, N.S.; Mathai, N.M.; Thankam, M.","year":"1965","unstructured":"Nair, N. S., Mathai, N. M., and Thankam, M. (1965). D1 trisomy syndrome (a case report). Journal of the Association of Physicians of India, 13, 213-215.","journal-title":"Journal of the Association of Physicians of India"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1007\/BF02796284","article-title":"D1 trisomy syndrome, report of a case","volume":"32","author":"Vimala Nayar, T.C.","year":"1965","unstructured":"-, and Vimala Nayar, T. C. (1965). D1 trisomy syndrome, report of a case. 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