{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:18:46Z","timestamp":1790864326233,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2008,7,25]],"date-time":"2008-07-25T00:00:00Z","timestamp":1216944000000},"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":[[2008,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Investigating transmission of a constitutive, g78238C\u2009&gt;\u2009T (R552X), <jats:italic>RB1<\/jats:italic> mutation in four affected children descended from three different unaffected fathers and an unaffected mother.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedures<\/jats:title><jats:p>Sequence data analyses and allele\u2010specific PCR assays were used to investigate the presence of the mutation in four affected children, five unaffected sibs (or half\u2010sibs), and the unaffected mother. Haplotyping was carried out for confirming that the children descended from different fathers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Haplotyping excluded the possibility of paternal transmission of a de novo mutation and provided evidence of maternal germline mosaicism. The mutation was apparently absent in blood\u2010 and buccal cell\u2010DNA of the mother who also showed a normal fundoscopy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings indicated that mosaicism was restricted to the maternal germline. The mutational event must have occurred at least 4 weeks post\u2010conception, unlike the early mutational events of most mosaics, occurring between fertilization and the 8th day of conception. The implications of these findings are discussed in view that genetic counselling should discriminate between germline mosaicism and de novo events in pseudo\u2010low\u2010penetrant hereditary retinoblastoma. Pediatr Blood Cancer 2008;51:598\u2013602. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.21687","type":"journal-article","created":{"date-parts":[[2008,7,25]],"date-time":"2008-07-25T15:37:16Z","timestamp":1217000236000},"page":"598-602","source":"Crossref","is-referenced-by-count":16,"title":["Hereditary retinoblastoma transmitted by maternal germline mosaicism"],"prefix":"10.1002","volume":"51","author":[{"given":"Raquel H.","family":"Barbosa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando R.","family":"Vargas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda C.C.","family":"Aguiar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sima","family":"Ferman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evandro","family":"Lucena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cibele R.","family":"Bonvicino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9ctor N.","family":"Seu\u00e1nez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,7,25]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-31"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/514861"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/302138"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/301766"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2003.014423"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019606-200103000-00003"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1210\/mend-2-12-1265"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580208.x"},{"key":"e_1_2_6_10_2","volume-title":"Color atlas of embryology","author":"Drews U","year":"1995"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(99)00385-2"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.21687","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.21687","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T19:56:47Z","timestamp":1697659007000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.21687"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7,25]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2008,11]]}},"alternative-id":["10.1002\/pbc.21687"],"URL":"https:\/\/doi.org\/10.1002\/pbc.21687","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7,25]]}}}