نتایج جستجو برای: chromosome abnormality

تعداد نتایج: 257024  

Journal: :Blood 2012
Yogen Saunthararajah Jaroslaw Maciejewski

An unexpected revelation of cancer genome studies has been frequent abnormality in genes for factors that modify chromatin, underscored in this issue of Blood by reports from Score et al and Kroeze et al of inactivating mutations and chromosome loss in SUZ12, EED and JARID2 in myelodysplastic syndrome (MDS) and myeloproliferative disease (MPD).

2004
Regine Schubert Evelin Schröck Thomas Ried Gesa Schwanitz

A boy with a duplication 12q24 to qter shows the characteristic phenotype of this chromosome abnormality. The aberration could be analysed as an unbalanced translocation 12/14 de novo by combining different banding techniques with FISH and SKY. Heterologous euchromatin translocations on the heterochromatic short arm regions of the acrocentrics are an extremely rare type of rearrangement.

Journal: :Haematologica 1995
F Ferrara L Vicari B Festa R Di Noto F Pane L Sebastio R Cimino

We describe a case of early myeloid blastic transformation in a 64-year-old man suffering from myelofibrosis with myeloid metaplasia. Both chronic and blastic phase cytogenetic analysis showed trisomy 13 to be the sole chromosome aberration. A potential role for this rare abnormality in determining such an unusually poor clinical outcome is discussed.

Journal: :Acta medica Okayama 1980
K Miyamoto J Sato I Miyoshi R Nishihara S Terao M Hara I Kimura

Chromosome analysis was performed on cells obtained from the pleural effusion of a Japanese patient with Burkitt's lymphoma. Two modal chromosomal numbers were found: 45 and 46. Five different karyotypes were present, all having a t (8q-;14q+) translocation. This case illustrates that Burkitt's lymphomas of Japanese are no exception to the frequent association of this chromosomal abnormality wi...

2013
Shirin Ferdowsi Reza Shirkoohi Gholamreza Toogeh

BACKGROUND The myelodysplastic syndrome (MDS) is a highly heterogenous disorder and karyotype analysis is helpful for diagnostic and prognostic estimation. Deletion in long arm chromosome 6 (6q del) as a sole abnormality is a rare event in MDS. This is the first case report of del (6q) as the only observed diagnostic change in Iran. We also reviewed the literature of this cytogenetic lesion.

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2018

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