title: Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies.
abstract: Bloom syndrome (BS) predisposes affected individuals to a wide variety of neoplasms including hematological malignancies. Thus far, cytogenetic findings in hematological neoplasms have been reported in only a few BS patients. We present the karyotypic findings in a BS patient diagnosed with acute myeloid leukemia (AML), FAB subtype M1, and a review of the literature, showing the preferential occurrence of total or partial loss of chromosome 7 in BS patients with AML or myelodysplastic syndromes (MDS).
authors.affiliation: Center for Medical Genetics, De Pintelaan 185, B-9000 Gent, Belgium.
authors.forename: B
authors.initials: B
authors.lastname: Poppe
authors.forename: H
authors.initials: H
authors.lastname: Van Limbergen
authors.forename: N
authors.initials: N
authors.lastname: Van Roy
authors.forename: E
authors.initials: E
authors.lastname: Vandecruys
authors.forename: A
authors.initials: A
authors.lastname: De Paepe
authors.forename: Y
authors.initials: Y
authors.lastname: Benoit
authors.forename: F
authors.initials: F
authors.lastname: Speleman
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D001816:Bloom Syndrome / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*