{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T04:22:31Z","timestamp":1791519751005,"version":"4.3.4"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,11,9]],"date-time":"2006-11-09T00:00:00Z","timestamp":1163030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This report presents the case of a 15\u2010year\u2010old male with severe chronic neutropenia, leukopenia, and persistent tetraploid mosaicism in the bone marrow and peripheral blood. His father had mild neutropenia and bone marrow tetraploidy. Flow cytometric analysis of DNA content peripheral blood showed tetraploidy in 20% of granulocytes and 15% of monocytes. Sequence analysis of the <jats:italic>ELA2<\/jats:italic> gene was normal, but the <jats:italic>GFI1<\/jats:italic> gene exhibited transient appearance of single base changes the coding region and promoter. We speculate that an underlying genetic defect, inherited in an autosomal dominant pattern, leads to both disordered mitosis and neutropenia in this kindred. Pediatr Blood Cancer 2008;50:630\u2013632. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.21094","type":"journal-article","created":{"date-parts":[[2006,11,9]],"date-time":"2006-11-09T22:16:45Z","timestamp":1163110605000},"page":"630-632","source":"Crossref","is-referenced-by-count":13,"title":["Mosaic tetraploidy and transient <i>GFI1<\/i> mutation in a patient with severe chronic neutropenia"],"prefix":"10.1002","volume":"50","author":[{"given":"Jessica C.","family":"Hochberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia M.","family":"Miron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly N.","family":"Hay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce A.","family":"Woda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sa A.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Richert\u2010Przygonska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew A.G.","family":"Aprikyan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter E.","family":"Newburger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,1,9]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-472X(03)00048-1"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.10255"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-11-4370"},{"key":"e_1_2_6_5_2","first-page":"429","article-title":"Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G\u2010CSF therapy","volume":"96","author":"Freedman MH","year":"2000","journal-title":"Blood"},{"key":"e_1_2_6_6_2","first-page":"1997","volume-title":"The AGT Cytogenetics Laboratory Manual","author":"Barch MJ"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1309\/8B849FC6PHAP8FDD"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0952-7915(00)00254-5"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1170"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.14.3.1786"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-07-2622"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0505318102"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2004.1.63"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190106"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00206.x"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03109.x"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb03452.x"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000175605.10844.3e"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.21094","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.21094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T20:01:32Z","timestamp":1696881692000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.21094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,9]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1002\/pbc.21094"],"URL":"https:\/\/doi.org\/10.1002\/pbc.21094","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,9]]}}}