TITLE

A Chronic Myelogenous Leukemia (CML) Case with a Cryptic Insertion of the ABL1 Gene of Chromosome 9 into 22 Resulting in a Fusion Signal on the Derivative 22: 46,XY.ish ins(22;9)(q11 .2;q34q34)BCR+,ABL1 +

AUTHOR(S)
Boles, John; DeNicola, Matthew; Collins, Robert; Garcia, Rolando; Patel, Sangeeta; Satayasoontorn, Kantang; Tirado, Carlos A.
PUB. DATE
March 2013
SOURCE
Journal of the Association of Genetic Technologists;2013 1st Quarter, Vol. 39 Issue 1, p21
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
The article presents a case study of a 49-year-old man who presented to a medical facility with splenomegaly, vertigo, and a high white blood cell (WBC) count. Topics include a diagnosis of chronic myelogenous leukemia (CML), which is a genetic disorder characterized by the specific cytogenetic translocation t(9;22)(q34;qll.2), or Philadelphia (Ph) chromosome, a bone marrow biopsy, and a fluorescence in situ hybridization (FISH) analysis indicating BCR/ABL1 gene fusion.
ACCESSION #
86736927

Tags: CHRONIC myeloid leukemia;  CHRONIC myeloid leukemia -- Case studies;  CHROMOSOME abnormalities;  FUSION;  TRANSLOCATION (Genetics);  BONE marrow;  FLUORESCENCE in situ hybridization;  BIOPSY;  GENE fusion;  KARYOTYPES;  HYDROXYUREA (Drug)

 

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