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Deletion of chromosome 20 in bone marrow of patients with S hwachman‐ D iamond syndrome, loss of the EIF6 gene and benign prognosis
Author(s) -
Pressato Barbara,
Valli Roberto,
Marletta Cristina,
Mare Lydia,
Montalbano Giuseppe,
Curto Francesco Lo,
Pasquali Francesco,
Maserati Emanuela
Publication year - 2012
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2012.09033.x
Subject(s) - isochromosome , genetics , bone marrow failure , bone marrow , biology , chromosome 7 (human) , chromosome , cancer research , medicine , gene , pathology , immunology , karyotype , stem cell , haematopoiesis
Shwachman-Diamond Syndrome (SDS; On-line Mendelian Inheritance in Man database number 260400) is an autosomal recessive disorder caused by mutations in the SBDS gene in at least 90% of cases (Boocock et al, 2003). It is characterized by exocrine pancreatic insufficiency, skeletal anomalies, and bone marrow failure with variable severity of neutropenia, thrombocytopenia and anaemia (Rothbaum et al, 2002). Acquired clonal chromosome anomalies are commonly found in the bone marrow (BM), being an isochromosome for the long arms of a 7, i(7)(q10), and a deletion of the long arms of a 20, del(20)(q11), the most frequent. The relationship between these chromosome changes and the risk of patients with SDS to develop myelodysplastic syndromes and acute myeloid leukaemia (MDS/AML) has been discussed (Dror, 2005). This risk increases with the age (Shimamura, 2006), and we have also shown that the acquisition of BM clonal anomalies is age-related (Maserati et al, 2009)