{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T05:47:45Z","timestamp":1777355265072,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,9,23]],"date-time":"2004-09-23T00:00:00Z","timestamp":1095897600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2005,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Greig cephalopolysyndactyly (GCPS; OMIM 175700) is an autosomal dominant condition caused by mutations of the gene <jats:italic>GLI3<\/jats:italic>, located on 7p13. To date, several cases of deletions and\/or translocations involving this locus have been reported in patients with GCPS. <jats:italic>GLI3<\/jats:italic> is a transcription factor from the <jats:italic>GLI<\/jats:italic>\u2010Kruppel gene family that has been implicated in three distinct entities: GCPS, Pallister\u2013Hall syndrome, and postaxial polydactyly type A. The zinc finger protein, subfamily 1, member 1 gene (<jats:italic>ZNFN1A1<\/jats:italic>; OMIM 603023), on 7p12, codes for a lymphoid\u2010restricted zinc finger transcription factor, ZNFN1A1, also called IKAROS, that regulates lymphocyte differentiation and has been associated with the development of childhood leukemia. We present the case of a 9\u2010year\u2010old Latin\u2010American boy who was referred for stem cell transplantation because of recurrent acute lymphoblastic leukemia (ALL). On evaluation, he was found to have dysmorphic features consistent with GCPS, including a prominent forehead, down\u2010slanting palpebral fissures, 1\u20102\u20103 toe syndactyly, broad thumbs and first toes, and mild developmental delay. He had developed ALL at 5 years of age. Chromosome analysis of bone marrow and fibroblastic cells showed an interstitial deletion of chromosome arm 7p, del(7)(p11.2p14), in 74% and 44% of the cells, respectively. We performed FISH analysis with a BAC clone containing the <jats:italic>ZNFN1A1<\/jats:italic> gene and demonstrated that it is contained in the deleted segment. To our knowledge, this is the first report of a patient with GCPS and leukemia. We hypothesize that constitutional deletion of the <jats:italic>ZNFN1A1<\/jats:italic> gene in this patient may have resulted in an increased risk of lymphoid malignancy. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20100","type":"journal-article","created":{"date-parts":[[2004,9,23]],"date-time":"2004-09-23T16:04:03Z","timestamp":1095955443000},"page":"82-86","source":"Crossref","is-referenced-by-count":15,"title":["Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the <i>GLI3<\/i> and <i>ZNFN1A1<\/i> genes"],"prefix":"10.1002","volume":"42","author":[{"given":"Roberto","family":"Mendoza\u2010Londono","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine D.","family":"Kashork","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa G.","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Krance","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon E.","family":"Plon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,9,23]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-259"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510320"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0952-7915(99)80028-4"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.6.453"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20018"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90407-3"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V95.8.2719"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-03-0689"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.10178"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-4608(00)00310-1"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20318"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1769"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01737691"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1443"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1989.tb06267.x"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-472X(00)00530-0"},{"key":"e_1_2_3_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197167"},{"key":"e_1_2_3_19_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1711.2003.01159.x"},{"key":"e_1_2_3_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0145-2126(95)00051-O"},{"key":"e_1_2_3_21_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.1999.17.12.3753"},{"key":"e_1_2_3_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.2.680"},{"key":"e_1_2_3_23_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2002.03487.x"},{"key":"e_1_2_3_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02565.x"},{"key":"e_1_2_3_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0145-2126(95)00050-X"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.20100","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.20100","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T20:47:24Z","timestamp":1696884444000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.20100"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,9,23]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,1]]}},"alternative-id":["10.1002\/gcc.20100"],"URL":"https:\/\/doi.org\/10.1002\/gcc.20100","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,9,23]]}}}