{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:40:21Z","timestamp":1787017221487,"version":"build-2736575974"},"reference-count":27,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,2]]},"abstract":"<jats:p>A 13-year-old boy with 9p- (p22 leads to pter) is reported. He had many features in common with previous 9p- cases, as well as several distinctive features including polydactyly and precocious puberty. Cytogenetic studies revealed a de novo deletion distal to ban 9p22, which was the reported site of chromosome break in 9 of the 10 previous 9p- cases. Evaluation of the human GALT enzyme suggests that its locus is not on the deleted segment.<\/jats:p>","DOI":"10.1136\/jmg.16.1.75","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"75-79","source":"Crossref","is-referenced-by-count":17,"title":["The 9p-syndrome."],"prefix":"10.1136","volume":"16","author":[{"given":"S J","family":"Funderburk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R S","family":"Sparkes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Klisak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1979,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1007\/BF00278889","article-title":"An improved technique for selective silver staining of nucleolar organiser regions in human chromosomes","volume":"34","author":"Bloom, S.E.; Goodpasture, C.","year":"1976","unstructured":"Bloom, S. E., and Goodpasture, C. (1976). An improved technique for selective silver staining of nucleolar organiser regions in human chromosomes. Human Genetics, 34, 199-206.","journal-title":"Human Genetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1136\/jmg.13.5.381","article-title":"Structure and inheritance of some heterozygous Robertsonian translocations in man","volume":"13","author":"Daniel, A.; Lam-Po-Tang, P.R.L.C.","year":"1976","unstructured":"Daniel, A., and Lam-Po-Tang, P. R. L. C. (1976). Structure and inheritance of some heterozygous Robertsonian translocations in man. Journal of Medical Genetics, 13, 381-388.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1111\/j.1399-0004.1976.tb01623.x","article-title":"Mental retardation, malformation and partial 7p monosomy, 45, XX, t dic(7","volume":"9","author":"Nakagome, Y.; Teramura, F.; Kataoka, K.; Hosono, F.","year":"1976","unstructured":"Nakagome, Y., Teramura, F., Kataoka, K., and Hosono, F. (1976). Mental retardation, malformation and partial 7p monosomy, 45,XX, t dic(7;15)(p21;pl 1). Clinical Genetics, 9, 621-634.","journal-title":"15)(p21; pl; Clinical Genetics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1159\/000130186","article-title":"A 45, XX,5-13-dic+ karyotype in a case of Cri-du-chat syndrome","volume":"11","author":"Niebuhr, E.","year":"1972","unstructured":"Niebuhr, E. (1972). A 45,XX,5-13-dic+ karyotype in a case of Cri-du-chat syndrome. Cytogenetics, 11, 165-177.","journal-title":"Cytogenetics"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1111\/j.1399-0004.1974.tb01681.x","article-title":"A woman with congenital abnormalities, mental retardation and mosaicism for an unusual translocation chromosome t(6","volume":"5","author":"Pallister, P.D.; Patau, K.; Inhorn, S.L.; Opitz, J.M.","year":"1974","unstructured":"Pallister, P. D., Patau, K., Inhorn, S. L., and Opitz, J. M. (1974). A woman with congenital abnormalities, mental retardation and mosaicism for an unusual translocation chromosome t(6;19). Clinical Genetics, 5, 188-195.","journal-title":"Clinical Genetics"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1136\/jmg.14.1.66","article-title":"A stable dicentric autosome, t dic(8; 22)(p23; pl3) in a mentally retarded girl","volume":"14","author":"Roberts, S.H.; Howell, R.T.; Laurence, K.M.; Heathcote, M.E.","year":"1977","unstructured":"Roberts, S. H., Howell, R. T., Laurence, K. M., and Heathcote, M. E. (1977). A stable dicentric autosome, t dic(8;22)(p23;pl3) in a mentally retarded girl. Journal of Medical Genetics, 14, 66-68.","journal-title":"Journal of Medical Genetics"},{"key":"ref_7","first-page":"136","article-title":"Dicentric chromosome due to an unusual fusion","volume":"12","year":"1971","unstructured":"Subrt, I., Blehovd, B., and Taborsky, 0. (1971). Dicentric chromosome due to an unusual fusion. Humangenetik, 12, 136-141.","journal-title":"Humangenetik"},{"key":"ref_8","first-page":"439","article-title":"A stable human dicentric chromosome, t dic(12; 14)(pl3; pl 3) including an intercalary satellite region between centromeres","volume":"25","author":"Warburton, D.; Henderson, A.S.; Shapiro, L.R.; Hsu, L.Y.F.","year":"1973","unstructured":"Warburton, D., Henderson, A. S., Shapiro, L. R., and Hsu, L. Y. F. (1973). A stable human dicentric chromosome, t dic(12;14)(pl3;pl 3) including an intercalary satellite region between centromeres. American Journal of Human Genetics, 25, 439-455.","journal-title":"American Journal of Human Genetics"},{"key":"ref_9","article-title":"Ten patients have previously been described with deletion of a distal portion of the short arm","volume-title":"The patients had several features in common which suggest a recognisable syndrome: mental retardation, trigonocephaly or prominent forehead, flat occiput, flat nasal bridge, anteverted nostrils, long philtrum, micrognathia or retrognathia with wide gonial angle, abnormal auricles, short neck, wide set nipples, long fingers usually due to long middle phalanges, and hyperconvex nails. We report a patient whose clinical findings included polydactyly and precocious puberty as well as many of the features of previous 9pcases. Cytogenetic evaluation revealed a de novo deletion terminal to region 9p22","author":"of chromosome 9 (Orye et; al., 1975, Alfi","year":"1977","unstructured":"Ten patients have previously been described with deletion of a distal portion of the short arm of chromosome 9 (Orye et al., 1975; Alfi et al., 1976; Serville et al., 1976; Kuroki et al., 1977; Nielsen et al., 1977). The patients had several features in common which suggest a recognisable syndrome: mental retardation, trigonocephaly or prominent forehead, flat occiput, flat nasal bridge, anteverted nostrils, long philtrum, micrognathia or retrognathia with wide gonial angle, abnormal auricles, short neck, wide set nipples, long fingers usually due to long middle phalanges, and hyperconvex nails. We report a patient whose clinical findings included polydactyly and precocious puberty as well as many of the features of previous 9pcases. Cytogenetic evaluation revealed a de novo deletion terminal to region 9p22."},{"issue":"6","key":"ref_10","first-page":"28","article-title":"Red cell galactose-1-P uridyl tranferase (GALT, EC 2.7.7.12) activity was assayed using the consumption method of Beutler and Baluda","volume":"24","author":"proband,","year":"1966","unstructured":"Red cell galactose-1-P uridyl tranferase (GALT, EC 2.7.7.12) activity was assayed using the consumption method of Beutler and Baluda (1966). Electrophoresis of this enzyme was done by the method of Sparkes et al. (1977). The red cell GALT activities were normal (range 18 -5 to 28 5 IU\/g Hb): proband, 24@6; mother, 25@7; father, 28-4. Electrophoresis showed all to be homozygous for the normal allele (N\/N).","journal-title":"et al; Electrophoresis of this enzyme was done by the method of Sparkes"},{"key":"ref_11","article-title":"Findings from the current patient and previously reported 9pcases are summarised in the Table. In addition to those listed, the following features occurred once among the 9ppatients: hypotelorism and bifid tongue (Serville et al, 1976); mild microcephaly, low forehead, narrow thorax, seizures, and infantile autism or schizophrenia (Nielsen et al, 1977); malpositioned and missing teeth, and hydrocele of spermatic canal (current case); diaphragmatic hernia (Alfi et al, 1973); and diastasis recti, short fingers and arms, small hands, abnormal IVP, and hypotonia","volume-title":"As can be seen, the current patient had several features in common with previous 9pcases, including prominent forehead, hypertelorism, anteverted nares and long philtrum, Table Clinicalfindings in 9ppatients","year":"1975","unstructured":"Findings from the current patient and previously reported 9pcases are summarised in the Table. In addition to those listed, the following features occurred once among the 9ppatients: hypotelorism and bifid tongue (Serville et al, 1976); mild microcephaly, low forehead, narrow thorax, seizures, and infantile autism or schizophrenia (Nielsen et al, 1977); malpositioned and missing teeth, and hydrocele of spermatic canal (current case); diaphragmatic hernia (Alfi et al, 1973); and diastasis recti, short fingers and arms, small hands, abnormal IVP, and hypotonia (Orye et al, 1975). As can be seen, the current patient had several features in common with previous 9pcases, including prominent forehead, hypertelorism, anteverted nares and long philtrum, Table Clinicalfindings in 9ppatients"},{"key":"ref_12","article-title":"Prieur and colleagues identified 4 additional 9p monosomy patients, 2 with simple 9p deletions and 2 with 9pin combination with partial trisomy of another chromosome","volume-title":"However, details of clinical features were not sufficient for these cases to be included in the current review of","year":"1977","unstructured":"Prieur and colleagues identified 4 additional 9p monosomy patients, 2 with simple 9p deletions and 2 with 9pin combination with partial trisomy of another chromosome (Rethore, 1977). However, details of clinical features were not sufficient for these cases to be included in the current review of"},{"key":"ref_13","article-title":"Evaluation of human galactose-l-P uridyl transferase was carried out on the current patient because recent studies have mapped a locus for this enzyme","author":"ppatients","year":"1977","unstructured":"ppatients. Evaluation of human galactose-l-P uridyl transferase was carried out on the current patient because recent studies have mapped a locus for this enzyme to chromosome 9 (Mohandas et al., 1977). The normal activity for this enzyme in the proband and his parents suggests that its locus is not on the deleted segment 9p22-+pter.","journal-title":"et al; The normal activity for this enzyme in the proband and his parents suggests that its locus is not on the deleted segment 9p22-+pter"},{"key":"ref_14","article-title":"The site of the chromosome break appears to be at band 9p22 in all the reported 9pcases except one, where the deletion was","volume-title":"al., 1973), and in the second case it was mildly reduced in size (Orye et al; In two cases the deletions resulted from balanced parental translocations: t(9; 16)(p22; q24)mat","author":"to be terminal to band 9p21 (Serville","year":"1976","unstructured":"The site of the chromosome break appears to be at band 9p22 in all the reported 9pcases except one, where the deletion was reported to be terminal to band 9p21 (Serville et al., 1976). In two cases the deletions resulted from balanced parental translocations: t(9;16)(p22;q24)mat (Alfi et al., 1973), and t(9;15)(p22;q26)pat (Orye et al., 1975). In the remaining cases the 9p deletion occurred de novo as in the current patient. Interestingly, C-banding showed heterochromatin variation of the deleted chromosome 9 in both of the previous translocation cases. In one, the heterochromatin block was completely missing (Alfi et al., 1973), and in the second case it was mildly reduced in size (Orye et al., 1975). The relationship of the heterochromatin variation to the translocation in those cases remains speculative. Neither the current patient nor his parents had any heterochromatin variation in a chromosome 9."},{"key":"ref_15","first-page":"11","article-title":"Deletion of the short arm","volume":"16","author":"Alfi, O.; Donnell, G.N.; Crandall, B.F.; Derencsenyi, A.; Menon, R.","year":"1973","unstructured":"Alfi, O., Donnell, G. N., Crandall, B. F., Derencsenyi, A., and Menon, R. (1973). Deletion of the short arm of chromosome 9 (46,9p-): a new deletion syndrome. Annales de Gene'tique, 16, 11-22.","journal-title":"Annales de Gene'tique; deletion syndrome"},{"key":"ref_16","first-page":"27","article-title":"A new deletion syndrome","volume":"46","author":"Alfi, O.; Sanger, R.G.; Sweeny, A.E.; Donnell, G.N.","year":"1974","unstructured":"Alfi, O., Sanger, R. G., Sweeny, A. E., and Donnell, G. N. (1974). 46, del (9) (22:). A new deletion syndrome. Clinical Cytogenetics and Genetics. Birth Defects: Original Article Series, 10, 27-34. The National Foundation-March of Dimes, New York.","journal-title":"Clinical Cytogenetics and Genetics. Birth Defects: Original Article Series; The National Foundation-March of"},{"key":"ref_17","first-page":"11","article-title":"The 9p - syndrome","volume":"19","author":"Alfi, O.; Donnell, G.N.; Aliderdice, P.W.; Derencsenyi, A.","year":"1976","unstructured":"Alfi, O., Donnell, G. N., Aliderdice, P. W., and Derencsenyi, A. (1976). The 9p - syndrome. Annales de Genetique, 19, 11-16.","journal-title":"Annales de Genetique"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/0009-8981(66)90217-8","article-title":"Improved method for measuring galactose-l-P uridyl transferase activity of erythrocytes","volume":"13","author":"Beutler, E.; Baluda, M.C.","year":"1966","unstructured":"Beutler, E., and Baluda, M. C. (1966). Improved method for measuring galactose-l-P uridyl transferase activity of erythrocytes. Clinica Chimica Acta, 13, 369-379.","journal-title":"Clinica Chimica Acta"},{"key":"ref_19","first-page":"72","article-title":"C-group chromosomes abnormality (?lOp-)","volume":"119","author":"Elliott, O.; Thomas, G.H.; Condron, C.J.; Khuri, N.; Richardson, F.","year":"1970","unstructured":"Elliott, O., Thomas, G. H., Condron, C. J., Khuri, N., and Richardson, F. (1970). C-group chromosomes abnormality (?lOp-). Americal Journal of Diseases of Children, 119, 72-73.","journal-title":"Americal Journal of Diseases of Children"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/BF00295813","article-title":"A case of 9p - syndrome","volume":"38","author":"Kuroki, Y.; Yokota, S.; Nakai, H.; Yamamoto, Y.; Matsui, I.","year":"1977","unstructured":"Kuroki, Y., Yokota, S., Nakai, H., Yamamoto, Y., and Matsui, I. (1977). A case of 9p - syndrome. Human Genetics, 38, 107-111.","journal-title":"Human Genetics"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"5628","DOI":"10.1073\/pnas.74.12.5628","article-title":"Assignment of the human gene for galactose1-P uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids","volume":"74","author":"Mohandas, T.; Sparkes, R.S.; Sparkes, M.C.; Shulkin, J.D.","year":"1977","unstructured":"Mohandas, T., Sparkes, R. S., Sparkes, M. C., and Shulkin, J. D. (1977). Assignment of the human gene for galactose1-P uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids. Proceedings of the National Academy of Sciences of the United States of America, 74, 5628-5631.","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"80-84","key":"ref_22","first-page":"\"90rye,\" # \"349","article-title":"The deletion 9p syndrome. A 61-year-old man with deletion of short arm 9","volume":"12","author":"Nielsen, J.; Homma, A.; Christiansen, F.; Rasmussen, K.; Saldania-Garcia, P.","year":"1977","unstructured":"Nielsen, J., Homma, A., Christiansen, F., Rasmussen, K., and Saldania-Garcia, P. (1977). The deletion 9p syndrome. A 61-year-old man with deletion of short arm 9. Clinical Genetics, 12, 80-84. 90rye, E., Verhaaren, H., and Van Den Bogaert-Van Heesvelde, A. M. (1975). The 9p - deletion syndrome. Report of a patient with a 46,XX, 9p - constitution due to a paternal t(9p-;15q+) translocation. Clinical Genetics, 8, 349-357.","journal-title":"Clinical Genetics; The 9p - deletion syndrome. Report of a patient with a 46, XX, 9p - constitution due to a paternal t(9p-; 15q+) translocation"},{"key":"ref_23","first-page":"154","article-title":"Syndromes involving chromosomes 4,9, and 12","volume-title":"New Chromosomal Syndromes","author":"Rethor6, M. 0","year":"1977","unstructured":"Rethor6, M. 0. (1977). Syndromes involving chromosomes 4,9, and 12. In New Chromosomal Syndromes, pp. 154-157."},{"key":"ref_24","first-page":"143","article-title":"Deletion partielle du bras court du chromosome 9","volume":"19","author":"Serville, F.; Allain, D.; Broustet, A.; Martin, C.L.; Gachet, M.; Babin, J.P.; Genraud, J.","year":"1976","unstructured":"Serville, F., Allain, D., Broustet, A., Martin, C. L., Gachet, M., Babin, J. P., and Genraud, J. (1976). Deletion partielle du bras court du chromosome 9. Annales de Genitique, 19, 143-147.","journal-title":"Annales de Genitique"},{"key":"ref_25","first-page":"93","article-title":"Improved technique for electrophoresis ofhuman galactose1-P uridyltransferase (EC 2.7.7.12)","volume":"40","author":"Sparkes, M.C.; Crist, M.; Sparkes, R.S.","year":"1977","unstructured":"Sparkes, M. C., Crist, M., and Sparkes, R. S. (1977). Improved technique for electrophoresis ofhuman galactose1-P uridyltransferase (EC 2.7.7.12). Human Genetics, 40, 93-97.","journal-title":"Human Genetics"},{"key":"ref_26","article-title":"were the first to draw attention to additional centromeric banding in the F group of chromosomes, it was Crossen","volume-title":"who specifically implicated chromosome 19","author":"Craig-Holmes, Although","year":"1973","unstructured":"Although Craig-Holmes et al. (1973) were the first to draw attention to additional centromeric banding in the F group of chromosomes, it was Crossen (1975) who specifically implicated chromosome 19."},{"key":"ref_27","article-title":"there has been very little documentation of this variant","author":"However","year":"1977","unstructured":"However, there has been very little documentation of this variant. McKenzie and Lubs (1975) and Nakagome et al. (1977) paid scant attention to it and other reviews of chromosome polymorphism (Buckton et al., 1976; Muller and Klinger, 1976) fail to mention it entirely.","journal-title":"McKenzie and Lubs (1975) and Nakagome et al; paid scant attention to it and other reviews of chromosome polymorphism (Buckton"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.1.75","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:41:57Z","timestamp":1759725717000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.1.75"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,2]]},"references-count":27,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1979,2,1]]},"published-print":{"date-parts":[[1979,2]]}},"alternative-id":["10.1136\/jmg.16.1.75"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.1.75","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,2]]}}}