title: Trisomy 21 and isodicentric chromosome 21 in Kostmann syndrome following treatment with G-CSF.
abstract: A child with Kostmann syndrome, or severe congenital neutropenia, developed myelodysplastic syndrome after 6 years of treatment with rhG-CSF. The bone marrow karyotype showed acquired trisomy 21, and in some cells pentasomy 21 due to two isodicentric chromosomes 21. This is the second report of a patient with Kostmann syndrome and acquired trisomy 21.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Calgary, 2500 University Drive N.W., T2N 1N4, Calgary, Alberta, Canada. broland@ucalgary.ca
authors.forename: B
authors.initials: B
authors.lastname: Roland
authors.forename: R C
authors.initials: RC
authors.lastname: Woodman
authors.forename: K
authors.initials: K
authors.lastname: Jorgenson
authors.forename: A
authors.initials: A
authors.lastname: Pinto
mesh_terms: D002891:Chromosomes, Human, Pair 21; D016179:Granulocyte Colony-Stimulating Factor / Q000009:adverse effects / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009190:Myelodysplastic Syndromes / Q000139:chemically induced*; D009503:Neutropenia / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics*; D011994:Recombinant Proteins; D014314:Trisomy
chemical_list: D011994:Recombinant Proteins; D016179:Granulocyte Colony-Stimulating Factor