title: Trisomy of the long arm of chromosome 1 resulting in a dicentric derivative (6)t(1;6) chromosome in a child with myelodysplastic syndrome following treatment for a primitive neuroectodermal tumor.
abstract: We report the clinical, hematologic, and cytogenetic findings for a child with secondary myelodysplastic syndrome (MDS) after treatment for a primitive neuroectodermal tumor. At the time of conversion to MDS, conventional cytogenetics revealed an unbalanced der(6)t(1;6) that resulted in trisomy of the long arm of chromosome 1 and partial monosomy and duplication of 6p. Using alpha satellite probes, fluorescence in situ hybridization of bone marrow cells showed that the rearranged chromosome contained the centromeres of both chromosomes 1 and 6, thus forming a dic(1;6) resulting in trisomy 1q. This report is the first to describe a case of childhood secondary myelodysplastic syndrome associated with a trisomy 1q involving chromosome 6.
authors.affiliation: Department of Pathology and Laboratory Medicine, St. Jude Children's Research Hospital, Memphis, TN 38105-2794, USA. susan.mathew@stjude.org
authors.forename: S
authors.initials: S
authors.lastname: Mathew
authors.forename: D
authors.initials: D
authors.lastname: Head
authors.forename: C
authors.initials: C
authors.lastname: Rodriguez-Galindo
authors.forename: S C
authors.initials: SC
authors.lastname: Raimondi
mesh_terms: D001932:Brain Neoplasms / Q000150:complications / Q000235:genetics* / Q000628:therapy; D002648:Child; D002878:Chromosomes, Human, Pair 1; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000235:genetics*; D018242:Neuroectodermal Tumors, Primitive / Q000150:complications / Q000235:genetics* / Q000628:therapy; D014178:Translocation, Genetic; D014314:Trisomy