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Marinesco‐Sjögren syndrome associated with acute mveloblastic leukemia
Author(s) -
Fukuda Seiji,
Yamada Yukiji,
Nishimura Masaaki,
Isogai Koji,
Terada Tomonori,
Iwata Masako,
Shimozawa Nobuyuki,
Suzuki Yasuyuki,
Kondo Naomi
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02471.x
Subject(s) - acute myeloblastic leukemia , cataracts , short stature , ataxia , cerebellar ataxia , medicine , pathology , atrophy , degenerative disease , microcephaly , leukemia , disease , immunology , pediatrics , psychiatry , ophthalmology
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.