Trisomy 21 and isodicentric chromosome 21 in Kostmann syndrome following treatment with G-CSF

B Roland; R C Woodman; K Jorgenson; A Pinto

doi:10.1016/s0165-4608(00)00393-9

Trisomy 21 and isodicentric chromosome 21 in Kostmann syndrome following treatment with G-CSF

Cancer Genet Cytogenet. 2001 Apr 1;126(1):78-80. doi: 10.1016/s0165-4608(00)00393-9.

Authors

B Roland¹, R C Woodman, K Jorgenson, A Pinto

Affiliation

¹ Department of Pathology and Laboratory Medicine, University of Calgary, 2500 University Drive N.W., T2N 1N4, Calgary, Alberta, Canada. [email protected]

PMID: 11343785
DOI: 10.1016/s0165-4608(00)00393-9

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.

Publication types

Case Reports

MeSH terms

Chromosomes, Human, Pair 21*
Granulocyte Colony-Stimulating Factor / adverse effects
Granulocyte Colony-Stimulating Factor / therapeutic use*
Humans
Infant
Karyotyping
Male
Myelodysplastic Syndromes / chemically induced*
Neutropenia / congenital*
Neutropenia / drug therapy
Neutropenia / genetics*
Recombinant Proteins
Trisomy*

Substances

Recombinant Proteins
Granulocyte Colony-Stimulating Factor