Trisomy 21 and isodicentric chromosome 21 in Kostmann syndrome following treatment with G-CSF.
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.
Roland
B
B
Department of Pathology and Laboratory Medicine, University of Calgary, 2500 University Drive N.W., T2N 1N4, Calgary, Alberta, Canada. broland@ucalgary.ca
Woodman
R C
RC
Jorgenson
K
K
Pinto
A
A
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
D011994:Recombinant Proteins; D016179:Granulocyte Colony-Stimulating Factor