Title: 5q- syndrome in a child
Authors: Uyttebroeck, A ×
Brock, P
De Groote, B
Renard, M
Dal Cin, Paola
Van den Berghe, Herman
Casteels-Van Daele, M #
Issue Date: Apr-1995
Publisher: Elsevier Science Pub. Co.
Series Title: Cancer Genetics and Cytogenetics vol:80 issue:2 pages:121-3
Abstract: A boy aged 8 years, 10 months presented with refractory anemia. Bone marrow investigation revealed monolobular megakaryocytes. Cytogenetic analysis showed a clonal abnormality: 46, XY, del(5)(q14q32). This is the youngest individual ever reported with this disorder. A year after diagnosis, while on treatment with human recombinant erythropoietin, the bone marrow showed an excess of blasts. No bone marrow donor could be found. Transformation to acute myelomonocytic leukemia occurred 3 months later. In spite of intensive chemotherapy, the child died of progressive disease with massive splenomegaly and jaundice. The case illustrates that the 5q- syndrome can occur de novo in children. The outcome in this child was poor, which may reflect a difference from the adult 5q- syndrome or may possibly be related to the erythropoietin the child received.
ISSN: 0165-4608
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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