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Marinesco-Sjögren syndrome associated with acute myeloblastic leukemia
S Fukuda1, Y Yamada, M Nishimura
1Department of Pediatrics, Gifu University, School of Medicine, Tsukasa-machi, Japan. sfuk@cc.gifu-u.ac.jp
Clinical Genetics
|April 1, 1997
Abstract:
Marinesco-Sjögren syndrome is a rare autosomal recessive disorder characterized by cerebellar atrophy, ataxia, cataracts, short stature and varying degrees of mental retardation. A high incidence of malignant disease associated with this syndrome has not so far been reported. We report the case of a 6-year-old girl affected with Marinesco-Sjögren syndrome, who developed acute myeloblastic leukemia (AML, M2), and whose karyotype was 46,XX,t(8;21),(q22;q22) in bone marrow blasts. This is the first report of Marinesco-Sjögren syndrome associated with malignant disorders.