{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T16:56:58Z","timestamp":1789750618723,"version":"4.0.1"},"reference-count":19,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,3]]},"abstract":"<jats:p>Nineteen patients were analysed by fluorescence in situ hybridisation (FISH) with selected 11p13 markers. They were examined because they had either isolated sporadic or familial aniridia, or aniridia with one or more of the WAGR (Wilms' tumour, aniridia, genital anomalies, and mental retardation) syndrome anomalies. The FISH markers from distal 11p13 were cosmids FO2121, PAX6 (aniridia), D11S324, and WT1 (Wilms' tumour predisposition). Two of the patients with isolated aniridia were abnormal, one with an apparently balanced reciprocal 7;11 translocation and an 11p13 breakpoint, which by FISH was shown to be approximately 30 kb distal to the aniridia (PAX6) gene, and the other had a submicroscopic deletion involving part of PAX6 that extended distally for approximately 245 kb. Two patients with aniridia together with other WAGR malformations had deletions involving all four cosmids. One case with aniridia associated with developmental and growth delay had a deletion including FO2121 and PAX6 but not D11S324 and WT1, while in a further case the deletion included all four test cosmids. These studies show that a combined conventional and molecular cytogenetic approach to patients presenting with aniridia is a useful method for differentiating between those with deletions extending into and including WT1 and therefore between those with high and low risks of developing Wilms' tumour.<\/jats:p>","DOI":"10.1136\/jmg.34.3.207","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"207-212","source":"Crossref","is-referenced-by-count":34,"title":["A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus."],"prefix":"10.1136","volume":"34","author":[{"given":"J A","family":"Crolla","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J E","family":"Cawdery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C A","family":"Oley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I D","family":"Young","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Gray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Fantes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"van Heyningen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,3,1]]},"reference":[{"key":"ref_1","first-page":"185","article-title":"AniridiaWilms' tumor association: evidence for specific deletion of lI","volume-title":"pl 3. Cytogenet Cell Genet","volume":"24","author":"Francke, U.; Holmes, L.B.; Atkins, L.; Riccardi, V.M.","year":"1979","unstructured":"Francke U, Holmes LB, Atkins L, Riccardi VM. AniridiaWilms' tumor association: evidence for specific deletion of lI pl 3. Cytogenet Cell Genet 1979;24:185-92."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1542\/peds.61.4.604","article-title":"Chromosomal imbalance in the aniridia-Wilms' tumor association: 1 lp interstitial deletion","volume":"61","author":"Riccardi, V.M.; Sujansky, E.; Smith, A.C.; Francke, U.","year":"1978","unstructured":"Riccardi VM, Sujansky E, Smith AC, Francke U. Chromosomal imbalance in the aniridia-Wilms' tumor association: 1 lp interstitial deletion. Pediatrics 1978;61:604-10.","journal-title":"Pediatrics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1007\/BF00291410","article-title":"Del 1 lpl3\/nephroblastoma without aniridia","volume":"67","author":"Turleau, C.; de Grouchy, J.; Nihoul-Fekete, C.; Dufier, J.L.; Chavin-Colin, F.; Junien, C.","year":"1984","unstructured":"Turleau C, de Grouchy J, Nihoul-Fekete C, Dufier JL, Chavin-Colin F, Junien C. Del 1 lpl3\/nephroblastoma without aniridia. Hum Genet 1984;67:455-6.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/BF00286597","article-title":"Regional mapping of catalase and Wilms tumor-aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment llpl1305pl.306","volume":"66","author":"Narahara, K.; Kikkawa, K.; Kimira, S.","year":"1984","unstructured":"Narahara K, Kikkawa K, Kimira S, et al. Regional mapping of catalase and Wilms tumor-aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment llpl1305pl.306. Hum Genet 1984; 66:181-5.","journal-title":"Hum Genet"},{"issue":"11","key":"ref_5","first-page":"297","article-title":"Familial isolated aniridia associated with a translocation involving chromosomes 11","volume":"22","author":"Moore, J.W.; Hyman, S.; Antonarakis, S.E.; Mules, E.H.; Thomas, G.H.","year":"1986","unstructured":"Moore JW, Hyman S, Antonarakis SE, Mules EH, Thomas GH. Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(pl3; q12.2)]. Hum Genet 1986;72:297-302.","journal-title":"and"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/0092-8674(90)90601-A","article-title":"Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus","volume":"60","author":"Call, K.M.; Glaser, T.; Ito, C.Y.","year":"1990","unstructured":"Call KM, Glaser T, Ito CY, et al. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 1990;60:509-20.","journal-title":"Cell"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1038\/343774a0","article-title":"Orkin SH, Bruns GAP. Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping","volume":"343","author":"Gessler, M.; Poustka, A.; Cavanee, W.; Neve, R.L.","year":"1990","unstructured":"Gessler M, Poustka A, Cavanee W, Neve RL, Orkin SH, Bruns GAP. Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping. Nature 1990;343:774-8.","journal-title":"Nature"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1016\/0092-8674(91)90284-6","article-title":"Positional cloning and characterization of a paired boxand homeoboxcontaining gene from the aniridia region","volume":"67","author":"Ton, C.C.T.; Hirvonen, H.; Miwa, H.","year":"1991","unstructured":"Ton CCT, Hirvonen H, Miwa H, et al. Positional cloning and characterization of a paired boxand homeoboxcontaining gene from the aniridia region. Cell 1991;67: 1059-74.","journal-title":"Cell"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/ng0892-328","article-title":"The human PAX6 gene is mutated in two patients with aniridia","volume":"1","author":"Jordan, T.; Hanson, I.; Zaletayev, D.","year":"1992","unstructured":"Jordan T, Hanson I, Zaletayev D, et al. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet 1992;1:328-32.","journal-title":"Nat Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/ng1192-232","article-title":"Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene","volume":"2","author":"Glaser, T.; Walton, D.S.; Maas, R.L.","year":"1992","unstructured":"Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet 1992;2:232-9.","journal-title":"Nat Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1093\/hmg\/2.7.915","article-title":"PAX6 mutations in aniridia","volume":"2","author":"Hanson, I.M.; Seawright, A.; Hardman, K.","year":"1993","unstructured":"Hanson IM, Seawright A, Hardman K, et al. PAX6 mutations in aniridia. Hum Mol Genet 1993;2:915-20.","journal-title":"Hum Mol Genet"},{"key":"ref_12","first-page":"1286","article-title":"Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization","volume":"51","author":"Fantes, J.A.; Bickmore, W.A.; Fletcher, J.M.; Ballesta, F.; Hanson, I.M.; van Heyningen, V.","year":"1992","unstructured":"Fantes JA, Bickmore WA, Fletcher JM, Ballesta F, Hanson IM, van Heyningen V. Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. AmJHum Genet 1992;51:1286-94.","journal-title":"AmJHum Genet"},{"key":"ref_13","first-page":"447","article-title":"A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1","volume-title":"Genomics","volume":"25","author":"Fantes, J.A.; Oghene, K.; Boyle, S.","year":"1995","unstructured":"Fantes JA, Oghene K, Boyle S, et al. A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. Genomics 1995;25:447-61."},{"key":"ref_14","first-page":"331","article-title":"Molecular analysis of aniridia patients for deletions involving the Wilms'","volume":"94","author":"Dreschler, M.; Meijers-Heijboer, E.J.; Schneider, S.","year":"1994","unstructured":"Dreschler M, Meijers-Heijboer EJ, Schneider S, et al. Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene. Hum Genet 1994;94:331-8.","journal-title":"tumor gene. Hum Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1093\/hmg\/4.3.415","article-title":"Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype","volume":"4","author":"Fantes, J.; Redeker, B.; Breen, M.","year":"1995","unstructured":"Fantes J, Redeker B, Breen M, et al. Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum Mol Genet 1995;4: 415-22.","journal-title":"Hum Mol Genet"},{"key":"ref_16","first-page":"66","article-title":"FISH studies in a patient with sporadic aniridia and t(7; I 1)(q31.2; p13)","volume":"33","author":"Crolla, J.A.; Cross, I.; Atkey, N.; Wright, M.; Oley, C.A.","year":"1996","unstructured":"Crolla JA, Cross I, Atkey N, Wright M, Oley CA. FISH studies in a patient with sporadic aniridia and t(7; I 1)(q31.2;p13).J3Med Genet 1996;33:66-8."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/0888-7543(91)90134-Z","article-title":"The distal region of Ip 13 and associated genetic diseases","volume":"11","author":"Mannens, M.; Hoovers, J.M.N.; Bleeker-Wagemakers, E.M.","year":"1991","unstructured":"Mannens M, Hoovers JMN, Bleeker-Wagemakers EM, et al. The distal region of Ip 13 and associated genetic diseases. Genomics 1991;11:284-93.","journal-title":"Genomics"},{"key":"ref_18","first-page":"1653","article-title":"Age distribution of Wilms' tumor: report from the national Wilms' tumor study","volume":"48","author":"Breslow, N.E.; Beckwith, J.B.; Ciol, M.; Sharples, K.","year":"1988","unstructured":"Breslow NE, Beckwith JB, Ciol M, Sharples K. Age distribution of Wilms' tumor: report from the national Wilms' tumor study. Cancer Res 1988;48:1653-7.","journal-title":"Cancer Res"},{"key":"ref_19","article-title":"An international system for human cytogenetic nomenclature","author":"FISCN, Mitelman","year":"1995","unstructured":"Mitelman F, ed. ISCN (1995). An international system for human cytogenetic nomenclature. Basel: Karger, 1995."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.3.207","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:40:07Z","timestamp":1760773207000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.3.207"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,3]]},"references-count":19,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1997,3,1]]},"published-print":{"date-parts":[[1997,3]]}},"alternative-id":["10.1136\/jmg.34.3.207"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.3.207","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,3]]}}}