| Clinics and Pathology |
| Disease | myelodysplastic syndrome (MDS) |
| Epidemiology | only 1 case to date: a 33 yr old female patient with RAEB1 |
| Cytogenetics | sole anomaly in this patient |
| Prognosis | The patient remains asymptomatic 5 yr after presentation |
| Genes involved and Proteins |
| Gene Name | HGMA2 |
| Location | 12q15 |
| Protein | probable role in regulation of cell proliferation (transcriptional regulation of cell cycle and DNA repair genes |
| Result of the chromosomal anomaly |
| Description | HMGA2 exon 3 spliced to intron 3 of the gene |
| Description | truncated HMGA2 (normal exons 1 to 3 followed by 12 amino acids from intron 3); ectopic expression of HMGA2 |
| External links |
| Other database | t(7;12)(p12;q13) | Mitelman database (CGAP - NCBI) | |
| Other database | t(7;12)(p12;q13) | CancerChromosomes (NCBI) |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies. |
| Odero MD, Grand FH, Iqbal S, Ross F, Roman JP, Vizmanos JL, Andrieux J, LaˆØ JL, Calasanz MJ, Cross NC |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (2) : 245-252. |
| PMID 15618963 |
| Contributor(s) |
| Written | 05-2005 | Jean Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(7;12)(p12;q13). Atlas Genet Cytogenet Oncol Haematol. May 2005 . URL : http://AtlasGeneticsOncology.org/Genes/t0712p12q13ID1388.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:06:56 2008 |
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