{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:10:08Z","timestamp":1759687808971,"version":"build-2065373602"},"reference-count":19,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1975,3]]},"abstract":"<jats:p>A four-generation transmission of 1qh+ chromosome was ascertained by routine chromosome analysis of a mildly dysmorphic and retarded 61\/2-year-old female. Concordance between synophrys and the 1qh+ marker was the only consistent phenotypic relationship. The variant chromosome did not appear uncoiled, and Giemsa centromeric staining (C-bands) revealed an increased width of the heterochromatin commensurate with the increased length of the long arm. Giemsa banding of the entire chromosome (G-bands) revealed two heterochromatin bands, identical in appearance, in the centromeric region with the remainder of the chromosome showing normal banding. The distribution of Duffy blood groups in the pedigree was consistent with the locus being on chromosome No. 1.<\/jats:p>","DOI":"10.1136\/jmg.12.1.44","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"44-48","source":"Crossref","is-referenced-by-count":2,"title":["Giemsa banding of chromosome 1gh+ and linkage analysis."],"prefix":"10.1136","volume":"12","author":[{"given":"P N","family":"Howard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G R","family":"Stoddard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M W","family":"Goddard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J R","family":"Seely","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1975,3,1]]},"reference":[{"key":"ref_1","first-page":"261","article-title":"Segregation of genetic markers in families with chromosome polymorphisms and structural rearrangements involving chromosome 1","volume":"37","author":"Cook, P.J.L.; Robson, E.B.; Buckton, K.E.; Jacobs, P.A.; Polani, P.E.","year":"1973","unstructured":"Cook, P. J. L., Robson, E. B., Buckton, K. E., Jacobs, P. A., and Polani, P. E. (1973\/1974). Segregation of genetic markers in families with chromosome polymorphisms and structural rearrangements involving chromosome 1. Annals of Human Genetics, 37, 261-274.","journal-title":"Annals of Human Genetics"},{"key":"ref_2","first-page":"465","article-title":"A familial chromosome variant in a subject with anomalous sex differentiation","volume":"15","author":"Cooper, H.L.; Hernits, R.","year":"1963","unstructured":"Cooper, H. L. and Hernits, R. (1963). A familial chromosome variant in a subject with anomalous sex differentiation. American Journal of Human Genetics, 15, 465-475.","journal-title":"American Journal of Human Genetics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1126\/science.174.4010.702","article-title":"Polymorphism of human constitutive heterochromatin","volume":"174","author":"Craig-Holmes, A.P.; Shaw, M.W.","year":"1971","unstructured":"Craig-Holmes, A. P. and Shaw, M. W. (1971). Polymorphism of human constitutive heterochromatin. Science, 174, 702-704.","journal-title":"Science"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1073\/pnas.61.3.949","article-title":"Probable assignment of the Duffy blood group locus to chromosome 1 in man","volume":"61","author":"Donihue, R.P.; Bias, W.B.; Renwick, J.H.; McKusick, V.A.","year":"1968","unstructured":"Donihue, R. P., Bias, W. B., Renwick, J. H., and McKusick, V. A. (1968). Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proceedings of the National Academy of Sciences, 61, 949-955.","journal-title":"Proceedings of the National Academy of Sciences"},{"key":"ref_5","article-title":"Heritable alternation of human constitutive heterochromatin induced by mitomycin C","author":"Hoehn, H.; Martin, G.M.","year":"1972","unstructured":"Hoehn, H. and Martin, G. M. (1972). Heritable alternation of human constitutive heterochromatin induced by mitomycin C."},{"key":"ref_6","first-page":"341","article-title":"Homozygous duplication on long arm of chromosome pair No","volume":"16","author":"Holzer, S.; Rosenkranz, W.; Glatzl, J.","year":"1972","unstructured":"Holzer, S., Rosenkranz, W., and Glatzl, J. (1972). Homozygous duplication on long arm of chromosome pair No. 1. Humangenetik, 16, 341-343."},{"key":"ref_7","first-page":"271","article-title":"Giemsa banding of a human metacentric chromosome number 9","volume":"18","author":"Howard, P.N.; Stoddard, G.R.; Seely, J.R.","year":"1973","unstructured":"Howard, P. N., Stoddard, G. R., and Seely, J. R. (1973). Giemsa banding of a human metacentric chromosome number 9. Humangenetik, 18, 271-272.","journal-title":"Humangenetik"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1038\/newbio233268a0","article-title":"Location of satellite and homogeneous DNA sequences on human chromosomes","volume":"233","author":"Jones, K.W.; Corneo, G.","year":"1971","unstructured":"Jones, K. W. and Corneo, G. (1971). Location of satellite and homogeneous DNA sequences on human chromosomes. Nature New Biology, 233, 268-271.","journal-title":"Nature New Biology"},{"key":"ref_9","first-page":"213","article-title":"Polymorphismus des konstitutiven Heterochromatins bei menschlichen A1-Metaphasechromosomen","volume":"18","author":"Kim, M.A.","year":"1973","unstructured":"Kim, M. A. (1973). Polymorphismus des konstitutiven Heterochromatins bei menschlichen A1-Metaphasechromosomen. Humangenetik, 18, 213-217.","journal-title":"Humangenetik"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"307","DOI":"10.2307\/3001469","article-title":"Extension of multiple range tests to group means with unequal number of replications","volume":"12","author":"Kramer, C.Y.","year":"1956","unstructured":"Kramer, C. Y. (1956). Extension of multiple range tests to group means with unequal number of replications. Biometrics, 12, 307-310.","journal-title":"Biometrics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1136\/jmg.9.3.276","article-title":"Giemsa banding pattern of a heritable lq + variant chromosome: a possible partial duplication","volume":"9","author":"Lobitz, J.R.; McCaw, B.K.; Hecht, F.","year":"1972","unstructured":"Lobitz, J. R., McCaw, B. K., and Hecht, F. (1972). Giemsa banding pattern of a heritable lq + variant chromosome: a possible partial duplication. _'ournal of Medical Genetics, 9, 276-279.","journal-title":"_'ournal of Medical Genetics"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1038\/233134a0","article-title":"Chromosome polymorphism in American Negro and white populations","volume":"233","author":"Lubs, H.A.; Ruddle, F.H.","year":"1971","unstructured":"Lubs, H. A. and Ruddle, F. H. (1971). Chromosome polymorphism in American Negro and white populations. Nature, 233, 134-136.","journal-title":"Nature"},{"key":"ref_13","article-title":"Mathematical Tables for Research Workers in Human Genetics","author":"Maynard-Smith, S.; Penrose, L.S.; Smith, C.A.B.","year":"1961","unstructured":"Maynard-Smith, S., Penrose, L. S., and Smith, C. A. B. (1961). Mathematical Tables for Research Workers in Human Genetics. Little, Brown, Boston."},{"key":"ref_14","first-page":"\"523","article-title":"Human amylase loci: genetic linkage with the Duffy blood group locus and assignment to linkage group I","volume":"25","author":"Merritt, A.D.; Lovrien, E.W.; Rivas, M.L.; Conneally, P.M.","year":"1973","unstructured":"Merritt, A. D., Lovrien, E. W., Rivas, M. L., and Conneally, P. M. (1973). Human amylase loci: genetic linkage with the Duffy blood group locus and assignment to linkage group I. American Journal of Human Genetics, 25, 523-538. New Haven Conference (1973). Human gene mapping. Birth Defects: Original Article Series, vol. 10, no. 3, 1974. National Foundation-March of Dimes, New York. Osztovics, M., Biuhler, E. M., Muiller, H., and Stalder, G. R. (1973). Banding techniques in the evaluation of human chromosomal variants. Humangenetik, 18, 123-128.","journal-title":"American Journal of Human Genetics; Human gene mapping. Birth Defects: Original Article"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1136\/jmg.9.3.264","article-title":"The use of new staining techniques for human chromosome identification","volume":"9","author":"Pearson, P.","year":"1972","unstructured":"Pearson, P. (1972). The use of new staining techniques for human chromosome identification. Journal of Medical Genetics, 9, 264-275.","journal-title":"Journal of Medical Genetics"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1126\/science.176.4042.1429","article-title":"Somatic cell genetic assignment of peptidase C and the Rh linkage group to chromosome A-1 in man","volume":"176","author":"Ruddle, F.; Ricciuti, F.; McMorris, F.A.; Tischfield, J.; Creagan, R.; Darlington, G.; Chen, T.","year":"1972","unstructured":"Ruddle, F., Ricciuti, F., McMorris, F. A., Tischfield, J., Creagan, R., Darlington, G., and Chen, T. (1972). Somatic cell genetic assignment of peptidase C and the Rh linkage group to chromosome A-1 in man. Science, 176, 1429-1431.","journal-title":"Science"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1111\/j.1469-1809.1968.tb00058.x","article-title":"Linkage scores and corrections in simple 2and 3-generation families","volume":"32","author":"Smith, C.A.B.","year":"1968","unstructured":"Smith, C. A. B. (1968). Linkage scores and corrections in simple 2and 3-generation families. Annals of Human Genetics, 32, 127-150.","journal-title":"Annals of Human Genetics"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1139\/g68-076","article-title":"Asymmetry of chromosome number 1 pair in three generations of a phenotypically normal family","volume":"10","author":"Ying, K.L.; Ives, E.J.","year":"1968","unstructured":"Ying, K. L. and Ives, E. J. (1968). Asymmetry of chromosome number 1 pair in three generations of a phenotypically normal family. Canadian Journal of Genetics and Cytology, 10, 575-589.","journal-title":"Canadian Journal of Genetics and Cytology"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1007\/BF00336756","article-title":"Chromosomal study in patients with cysts of the jaw, multiple nevoid basal cell carcinomata and bifid rib syndrome","volume":"14","author":"Yunis, J.J.; Gorlin, R.J.","year":"1963","unstructured":"Yunis, J. J. and Gorlin, R. J. (1963). Chromosomal study in patients with cysts of the jaw, multiple nevoid basal cell carcinomata and bifid rib syndrome. Chromosoma, 14, 146-153.","journal-title":"Chromosoma"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.1.44","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:34:11Z","timestamp":1759685651000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.1.44"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,3]]},"references-count":19,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1975,3,1]]},"published-print":{"date-parts":[[1975,3]]}},"alternative-id":["10.1136\/jmg.12.1.44"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.1.44","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1975,3]]}}}