Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions
نویسندگان
چکیده
منابع مشابه
Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes.
Acquired deletions of the long arm of chromosome 20 are found in several hematologic conditions and particularly in the myeloproliferative disorders and myelodysplastic syndromes. The spectrum of diseases associated with 20q deletions suggests that such deletions may mark the site of a tumor suppressor gene that contributes to the regulation of normal multipotent hematopoietic progenitors. We p...
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Deletions on the long-arm of chromosome 20, del(20q), are common karyotypic abnormalities in myeloid disorders. Bioinformatic analyses of the B-allele frequency and log R ratio values from genome-wide association data have identified individuals who are mosaic for large structural abnormalities (>2 Mb). We investigated the most common autosomal event, namely mosaic del(20q), in 46 254 nonhemato...
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Elliptocytosis is commonly seen as a hereditary condition. We present a case of myelodysplastic syndrome (MDS) del(q20) variant with concomitant acquired elliptocytosis. A 73-year-old male with a history of prostate cancer presented to the hospital for evaluation of bleeding gums. Initial evaluation showed Hgb of 9.3 gm/dl, hematocrit of 28%, platelet count of 36,000 K/cmm, and WBC of 1.8 K/cmm...
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Disease name and synonyms Diagnosis criteria / definition Differential diagnosis Frequency Clinical description Molecular characterization Management References
متن کاملClassification of Imprinted Genes
Diploid organisms have two copies of all genes. Each copy is inherited from one of the two parents of the organism. In most diploid organisms the genes are bi-allelically expressed i.e. both inherited copies of the gene are functional. However, a subset of mammalian genes are monoallelically expressed depending on the parent-of-origin. Either the copy inherited from the mother or the one from t...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2013
ISSN: 0021-9738
DOI: 10.1172/jci66113