1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers France
I- idiopathic MDS
II- secondary MDS: to previous chemo- and/or radio-therapy
III- genetic MDS: cases associated with a congenital genetic disease, such as: -neurofibromatosis type 1 (Von Recklinhausen) (MIM 16220): an hamartoneoplastic syndrome Kostmann syndrome (MIM 20270): also called congenital neutropenia -Bloom syndrome (MIM 21090): a chromosome instability syndrome Dubowitz syndrome (MIM 22337): mimicks Blooms, but without chromosome instability -Fanconi anaemia (MIM 22765): a chromosome instability syndrome -Schwachman syndrome (MIM 26040): with pancreatic insufficiency, and risksof leukaemia -Pearson disease (MIM 26056) and other mitochondrial diseases: they often share pancreatic insufficiency, bone marrow pancytopenia with myelodysplastic features but maintained polyclonality, muscular and other ubiquitous manifestations-familial monosomy 7-familial platelet storage pool deficiency-unbalanced constitutional karyotypes, including +21, +8,del(11q), del(21q) miscellaneous conditions.
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Jean-Loup Huret ; Claude Léonard ; Jean-Loup Huret
Childhood myelodysplastic syndromes
Atlas Genet Cytogenet Oncol Haematol. 1997-07-01
Online version: http://atlasgeneticsoncology.org/haematological/1101/js/gene-fusions-explorer/humanGenome