{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:40:36Z","timestamp":1759722036576,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1985,2]]},"abstract":"<jats:p>A 3 month old boy with a tandem duplication 9p (p12----p24) is reported. Both clinical and dermatoglyphic features were consistent with those of the trisomy 9p syndrome. However, the red cell galactose-1-P uridyl transferase (GALT) activity was normal despite the presence of the duplicated segment 9p13.<\/jats:p>","DOI":"10.1136\/jmg.22.1.64","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"64-66","source":"Crossref","is-referenced-by-count":17,"title":["De novo tandem duplication 9p (p12----p24) with normal GALT activity in red cells."],"prefix":"10.1136","volume":"22","author":[{"given":"T","family":"Motegi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Watanabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Yanagawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1985,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1159\/000132030","article-title":"Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding","volume":"38","author":"Ikeuchi, T.","year":"1984","unstructured":"Ikeuchi T. Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding. Cytogenet Cell Genet 1984;38:56-61.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/0009-8981(66)90217-8","article-title":"Improved method for measuring galactose-1-P uridyl transferase activity of erythrocytes","volume":"13","author":"Beutler, E.; Baluda, M.C.","year":"1966","unstructured":"Beutler E, Baluda MC. Improved method for measuring galactose-1-P uridyl transferase activity of erythrocytes. Clin Chim Acta 1966;13:369.","journal-title":"Clin Chim Acta"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/BF00291926","article-title":"Partial duplication of the short arm of chromosome 9(pl3-*p22) in a child with typical 9p trisomy phenotype","volume":"46","author":"Fryns, J.P.; Casaer, P.; Van den Berghe, H.","year":"1979","unstructured":"Fryns JP, Casaer P, Van den Berghe H. Partial duplication of the short arm of chromosome 9(pl3-*p22) in a child with typical 9p trisomy phenotype. Hum Genet 1979;46:231-6.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/BF00291321","article-title":"Duplication of thc short arm of chromosome 9. Analysis of five cases","volume":"61","author":"Cuoco, C.; Gimelli, G.; Pasquali, F.; el al","year":"1982","unstructured":"Cuoco C, Gimelli G, Pasquali F, el al. Duplication of thc short arm of chromosome 9. Analysis of five cases. Humn Genet 1982;61:3-7.","journal-title":"Humn Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1007\/BF00295601","article-title":"The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes","volume":"62","author":"Young, R.S.; Reed, T.; Hodes, M.E.; Palmer, C.G.","year":"1982","unstructured":"Young RS, Reed T, Hodes ME, Palmer CG. The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes. Hum Genet 1982;62:31-9.","journal-title":"Hum Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1159\/000132005","article-title":"Report of the committee on the genetic constitution of chromosomes","volume":"8","author":"P, Meera Khan; M, Smith","year":"1984","unstructured":"Meera Khan P, Smith M. Report of the committee on the genetic constitution of chromosomes 7, 8, and 9. Cytogenet Cell Genet 1984;37:71-102.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_7","article-title":"Complex chromosomal rearrangements involving exchanges between three or more chromosomes are not frequent'","volume-title":"In the present paper we describe an azoospermic man with a karyotype showing balanced translocations between four chromosomes","year":"rare.2","unstructured":"Complex chromosomal rearrangements involving exchanges between three or more chromosomes are not frequent' and their association with male infertility is rare.2 In the present paper we describe an azoospermic man with a karyotype showing balanced translocations between four chromosomes."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.22.1.64","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:22:14Z","timestamp":1759720934000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.22.1.64"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,2]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1985,2,1]]},"published-print":{"date-parts":[[1985,2]]}},"alternative-id":["10.1136\/jmg.22.1.64"],"URL":"https:\/\/doi.org\/10.1136\/jmg.22.1.64","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1985,2]]}}}