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Confirmation of the cytogenetic interpretation was obtained from the assay of the enzyme galactose-1-P uridyl transferase, the locus for which is on 9p, which showed twice the normal activity.<\/jats:p>","DOI":"10.1136\/jmg.17.3.227","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"227-230","source":"Crossref","is-referenced-by-count":28,"title":["Tetrasomy 9p: confirmation by enzyme analysis."],"prefix":"10.1136","volume":"17","author":[{"given":"S J","family":"Moedjono","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B F","family":"Crandall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R S","family":"Sparkes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,6,1]]},"reference":[{"key":"ref_1","first-page":"273","article-title":"Tetrasomie partielle du chromosome","volume":"i","author":"Ghymers, D.; Hermann, B.; Dist&che, C.; Frederic, J.","year":"1973","unstructured":"Ghymers D, Hermann B, Dist&che C, Frederic J. Tetrasomie partielle du chromosome 9, i l'6tat de mosaique, The proband was the third child born to healthy chez un enfant porteur de malformations multiples. unrelated parents when the mother was 39 and the Hum Genet 1973;20:273-82.","journal-title":"9; l'6tat de mosaique, The proband was the third child born to healthy chez un enfant porteur de malformations multiples. unrelated parents when the mother was 39 and the Hum Genet"},{"issue":"2 33 kg","key":"ref_2","article-title":"Partial tetrasomy 9(9pter9q2101) due to an extra iso-dicentric chromosome","volume-title":"20: 111-4. father 38 years of age. His sibs were","author":"Abe, T.; Morita, M.; Kawai, K.; Misawa, S.; Takino, T.; Hashimoto, H.; Nakagome, Y.","year":"1977","unstructured":"Abe T, Morita M, Kawai K, Misawa S, Takino T, Hashimoto H, Nakagome Y. Partial tetrasomy 9(9pter9q2101) due to an extra iso-dicentric chromosome. Ann Genet (Paris) 1977;20:111-4. father 38 years of age. His sibs were aged 9 and 7 5 years at this time and there had been one spontaneous first trimester abortion. He was born at term after a normal delivery, birthweight 2 33 kg."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1111\/j.1399-0004.1975.tb00309.x","article-title":"A new case of the trisomy 9p syndrome","volume":"7","author":"Orye, E.; Verhaaren, H.; Van Egmond, H.; DevlooBlancquaert, A.","year":"1975","unstructured":"Orye E, Verhaaren H, Van Egmond H, DevlooBlancquaert A. A new case of the trisomy 9p syndrome. Clin Genet 1975;7:134-43.","journal-title":"Clin Genet"},{"key":"ref_4","first-page":"163","article-title":"There were respiratory and feeding difficulties with failure to thrive as an infant. Feeding problems have remained to the present time. All milestones were delayed and he is now severely retarded. Fits some 9. Hum Genet","volume":"25","year":"1974","unstructured":"There were respiratory and feeding difficulties with failure to thrive as an infant. Feeding problems have remained to the present time. All milestones were delayed and he is now severely retarded. Fits some 9. Hum Genet 1974;25:163-70."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1111\/j.1399-0004.1978.tb02120.x","article-title":"Partial tetrasomy 9 in a liveborn infant","volume":"14","author":"Wisniewski, L.; Politis, G.D.; Higgins, J.V.","year":"1978","unstructured":"Wisniewski L, Politis GD, Higgins JV. Partial tetrasomy 9 in a liveborn infant. 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Clin Chim Acta 1966;13:369-79.","journal-title":"Clin Chim Acta"},{"key":"ref_7","first-page":"93","article-title":"weight 22 kg (on the 50th centile for a 5","volume":"40","author":"cm","year":"1977","unstructured":"5 cm, weight 22 kg (on the 50th centile for a 5 to 7 year-old), head circumference 49 cm (on the ferase (EC 2.7.7.12). Hum Genet 1977;40:93-7.","journal-title":"Hum Genet"},{"key":"ref_8","article-title":"asymmetrical skull with the left side more prominent, Toomey KE, Funderburk SJ. Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AKs and ACONs on chromosome 9. Cytogenet Cell Genet","author":"Mohandas, T.; Sparkes, R.S.; Sparkes, M.C.; Shulkin, J.D.","unstructured":"Mohandas T, Sparkes RS, Sparkes MC, Shulkin JD, asymmetrical skull with the left side more prominent, Toomey KE, Funderburk SJ. Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AKs and ACONs on chromosome 9. Cytogenet Cell Genet (in press)."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.3.227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:11:11Z","timestamp":1759723871000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.3.227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,6]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1980,6,1]]},"published-print":{"date-parts":[[1980,6]]}},"alternative-id":["10.1136\/jmg.17.3.227"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.3.227","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,6]]}}}