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Results of the cytogenetic studies were fully consistent with the diagnosis of BS: the occurrence of quadriradial figures and a very high incidence of sister\u2010chromatid exchanges (SCE). This child's ALL was of non\u2010B, non\u2010T type with the presence, at the time of diagnosis, of a marrow clone including two markers. A Yq\u2013 chromosome was detected in about 10% of PHA\u2010stimulated lymphocytes but neither in bone marrow cells nor in skin fibroblasts. This case is the fifth instance of ALL out of 104 registered cases of BS.<\/jats:p>","DOI":"10.1002\/ajmg.1320180205","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:42:31Z","timestamp":1118518951000},"page":"215-221","source":"Crossref","is-referenced-by-count":9,"title":["Cytogenetic study in a mentally retarded child with bloom syndrome and acute lymphoblastic leukemia"],"prefix":"10.1002","volume":"18","author":[{"given":"Christiane","family":"Werner\u2010Favre","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marinette","family":"Wyss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Cabrol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7oise","family":"F\u00e9lix","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Guenin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Laufer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Engel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb00961.x"},{"key":"e_1_2_1_3_1","first-page":"177","article-title":"Bloom's syndrome\u2010Discussion of the diagnosis concerning two cases of terminal leukemia in a sibship","volume":"25","author":"Brunel D","year":"1977","journal-title":"J Genet hum"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.71.11.4508"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/300765a0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(197910)44:4<1507::AID-CNCR2820440448>3.0.CO;2-A"},{"key":"e_1_2_1_7_1","first-page":"196","article-title":"Bloom's syndrome. 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