No abstract available.
Asian Continental Ancestry Group/*genetics ; Child ; Chromosome Disorders/*diagnosis ; *Chromosomes, Human, Pair 2 ; Gene Deletion ; Humans ; Male ; Matrix Attachment Region Binding Proteins/*genetics ; Multiplex Polymerase Chain Reaction ; Republic of Korea ; Transcription Factors/*genetics

No abstract available.
Aged ; Cytidine Deaminase/*genetics/metabolism ; Dasatinib/therapeutic use ; Disease Progression ; Drug Resistance, Neoplasm ; Fusion Proteins, bcr-abl/genetics/metabolism ; Humans ; Imatinib Mesylate/*therapeutic use ; In Situ Hybridization, Fluorescence ; Karyotype ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*drug therapy ; Male ; Microfilament Proteins/*genetics/metabolism ; Oncogene Proteins/*genetics/metabolism ; Protein Kinase Inhibitors/*therapeutic use

Anti-f(ce) is a rare unexpected antibody against the ce(f) antigen. The aim of this study is to report a second case of anti-f(ce) identified in a patient. A 66-year-old-male with pancreatic cancer received percutaneous transhepatic biliary drainage. During pretransfusion tests, anti-f(ce) was identified. He had a history of multiple transfusions and was transfused with 2 units of antiglobulin crossmatch compatible RBCs without any adverse reactions. To confirm that the antibody was specific for ce(f) antigen, we crossmatched the patient's serum with RhD-positive red cells of Rh phenotype DcE, DCcEe, DCce, and DCe; all results were negative. Conversely, a crossmatch with RhD-negative red cells of Rh phenotype ce, Cce, and cEe, showed positive results for Rh phenotype ce and cEe red cells. Among the four reports that confirmed anti-e, we discovered the possibility of co-existence of anti-C or misidentification of anti-Ce as anti-e. Therefore, when antibodies against Rh antigens are identified, the possibility of co-existence of antibodies against compound antigens should be considered. Using unexpected antibody identification panel that ce(f) antigen positive red cells are marked is recommended for sensitive detection of anti-f(ce).
Antibodies ; Drainage ; Humans ; Pancreatic Neoplasms* ; Phenotype

No abstract available.
Adult ; Brain/diagnostic imaging ; Bronchoscopy ; *Chromosomes, Human, Pair 9 ; Death, Sudden, Cardiac/*etiology ; Gene Duplication ; Humans ; Karyotyping ; Male ; Mental Disorders/*complications/genetics/pathology ; Tomography, X-Ray Computed ; Tracheomalacia/diagnostic imaging ; Ventricular Fibrillation/complications

BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) is known to be associated with poor prognosis in B-cell ALL (B-ALL). To determine the frequency and clinical characteristics of iAMP21 in Korean B-ALL patients, we performed FISH and multiplex ligation-dependent probe amplification (MLPA) analyses. METHODS: A total of 102 childhood B-ALL patients were screened with ETV6-RUNX1 FISH probes (Abbott Molecular, USA). The presence of an iAMP21 was confirmed by using MLPA P327 iAMP21-ERG probemix (MRC Holland, The Netherlands). RESULTS: iAMP21 was detected in one of the screened B-ALL patients (1/102 patients, 1.0%) who presented the ALL immunophenotype and complex karyotype at initial diagnosis. The patient relapsed twice after bone marrow transplantation. MLPA showed 12.5-Mb and 4.28-Mb regions of amplification and deletion, respectively. CONCLUSIONS: The frequency of iAMP21 is considerable in Korean pediatric patients. Our report suggests that iAMP21 in childhood B-ALL has very unfavorable impact on patient's prognosis. Additional methods such as MLPA analysis is essential to rule out patients with equivocal interphase FISH results.
Adolescent ; Asian Continental Ancestry Group/*genetics ; B-Lymphocytes/*metabolism ; Child ; Child, Preschool ; *Chromosomes, Human, Pair 21 ; Core Binding Factor Alpha 2 Subunit/genetics ; DNA Probes/metabolism ; Female ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Male ; Multiplex Polymerase Chain Reaction ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis/genetics ; Proto-Oncogene Proteins c-ets/genetics ; Repressor Proteins/genetics ; Republic of Korea ; Translocation, Genetic ; Young Adult

No abstract available.
Bone Marrow/pathology ; Burkitt Lymphoma/*diagnosis/genetics ; Child ; Chromosomes, Human, Pair 1 ; Female ; Flow Cytometry ; Humans ; Immunoglobulin Heavy Chains/genetics ; Isochromosomes/*genetics ; Karyotype ; Karyotyping ; Proto-Oncogene Proteins c-myc/genetics ; Republic of Korea ; Translocation, Genetic

BACKGROUND: All over the world, chromosomal microarray (CMA) is now the first tier diagnostic assay for genetic testing to evaluate developmental delay (DD), mental retardation (MR), and autism spectrum disorder (ASD) with unknown etiology. The average diagnostic yield of the CMA test is known to be about 12.2%, while that of conventional G-banding karyotype is below 3%. This study aimed to assess the usefulness of CMA for the purpose of clinical diagnostic testing in the Korean population. METHODS: We performed CMA and multiplex ligation-dependent probe amplification (MLPA) tests in 96 patients with normal karyotype and unexplained DD, MR, or ASD. The CMA was conducted with CytoScan 750K array (Affymetrix, USA) with an average resolution of 100 kb. RESULTS: Pathogenic copy number variations (CNVs) were detected in 15 patients by CMA and in two patients by MLPA for four known microdeletion syndromes (Prader-Willi/Angelman syndrome, DiGeorge syndrome, Miller-Dieker syndrome and Williams syndrome) designated by National Health Insurance system in Korea. The diagnostic yield was 15.6% and 2.1%, respectively. Thirteen (13.5%) patients (excluding cases with pathogenic CNVs) had variants of uncertain clinical significance. There was one patient with a 17.1-megabase (Mb) region of homozygosity on chromosome 4q. CONCLUSIONS: Our findings suggest the necessity of CMA as a routine diagnostic test for unexplained DD, MR, and ASD in Korea.
Child ; Child Development Disorders, Pervasive ; Classical Lissencephalies and Subcortical Band Heterotopias ; Diagnostic Tests, Routine ; DiGeorge Syndrome ; Genetic Testing ; Humans ; Intellectual Disability ; Karyotype ; Korea ; Microarray Analysis* ; Multiplex Polymerase Chain Reaction ; National Health Programs

No abstract available.
Cafe-au-Lait Spots* ; Chromosomes, Human, Pair 15* ; Humans

No abstract available.
Base Sequence ; Bone Marrow/pathology ; Fusion Proteins, bcr-abl/*genetics ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/*genetics ; Male ; Middle Aged ; Real-Time Polymerase Chain Reaction