title: Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome.
abstract: Bloom syndrome is a genomic instability syndrome associated with predisposition to development of various types of malignancy. In this report, we described a 7-year-old boy with Bloom syndrome (BS) and myelodysplastic syndrome (MDS) associated with monosomy 7 and loss of the Y chromosome. To our knowledge, this was the first case with BS showing monosomy 7 and MDS during the early childhood period.
authors.affiliation: Department of Genetics, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
authors.forename: D
authors.initials: D
authors.lastname: Aktas
authors.forename: A
authors.initials: A
authors.lastname: Koc
authors.forename: K
authors.initials: K
authors.lastname: Boduroglu
authors.forename: G
authors.initials: G
authors.lastname: Hicsonmez
authors.forename: E
authors.initials: E
authors.lastname: Tuncbilek
mesh_terms: D000754:Anemia, Refractory, with Excess of Blasts; D001816:Bloom Syndrome / Q000235:genetics* / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002897:Chromosomes, Human, Pair 7; D017353:Gene Deletion; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D008297:Male; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D014998:Y Chromosome