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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

7.Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia.

Nae YU ; Saeam SHIN ; Jong Rak CHOI ; Yoonjung KIM ; Kyung A LEE

Annals of Laboratory Medicine 2017;37(2):177-179

8.t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia.

Jieun KIM ; Hyo Sun KIM ; Saeam SHIN ; Seung Tae LEE ; Jong Rak CHOI

Annals of Laboratory Medicine 2016;36(4):396-398

9.The Frequency of Unexpected Antibodies and Clinical Characteristics of Transfusion Candidates in a General Hospital During the Past 12 Years.

Saeam SHIN ; Yangsoon LEE ; Kwang Kuk YOON ; Yong Ah KIM

Journal of Laboratory Medicine and Quality Assurance 2012;34(2):99-105

BACKGROUND: Unexpected antibodies are an important cause of hemolytic transfusion reaction. Thus, unexpected antibody screening and identification tests should be performed before every transfusion. We evaluated the frequency and distribution of unexpected antibodies and the clinical characteristics of patients in a Korean secondary general hospital with 745 beds in the past 12 years. METHODS: Between March 2000 and October 2011, unexpected antibody screening and an identification test using the Bio-Rad ID-System (Bio-Rad, USA) were performed in 72,600 patients. RESULTS: Of the 72,600 patients, 467 (0.64%) showed positive results for antibody screening tests. Among them, alloantibodies were identified in 324 (69.4%) patients and the types of alloantibodies were not identified in 64 (13.7%) patients. Autoantibodies were detected in 71 (15.2%) patients and panagglutination reactions were detected in 8 (1.7%). Of the 467 cases, 164 (35.1%) had a history of transfusion in our hospital. Among the 324 patients in whom alloantibodies were identified, anti-E (37.3%), anti-Lea (16.7%), anti-E and anti-c (14.8%), anti-C and anti-e (5.6%), anti-Leb (4.9%), anti-D (4.6%), anti-Jka (3.1%), anti-S (2.5%), and anti-M (1.9%) were detected. In 41 of the 324 (12.7%) of these patients, the types of antibodies were identified with the NaCl/Enzyme gel test but not with the LISS/Coombs gel test. CONCLUSIONS: Among the 467 patients, 130 (27.8%) in whom unexpected antibodies were detected, were scheduled for surgery. Because 101 of these 130 patients (77.7%) were unimmunized, unexpected antibody screening may be important in secondary hospitals with patients who do not have a detailed transfusion history. We identified Rh, P, and Lewis group antibodies more efficiently with a combination of the LISS/Coombs gel test and the NaCl/Enzyme gel test.
Antibodies ; Autoantibodies ; Blood Group Incompatibility ; Hospitals, General ; Humans ; Isoantibodies ; Mass Screening

10.PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.

Sun Mi CHO ; Saeam SHIN ; Kyung A LEE

Annals of Laboratory Medicine 2016;36(6):555-560

BACKGROUND: This study aimed to identify pathogenic variants of PRSS1, SPINK1, CFTR, and CTRC genes in Korean patients with idiopathic pancreatitis. METHODS: The study population consisted of 116 Korean subjects (65 males, 51 females; mean age, 30.4 yr, range, 1-88 yr) diagnosed with idiopathic chronic pancreatitis (ICP), idiopathic recurrent acute pancreatitis (IRAP), or idiopathic acute pancreatitis (IAP). We analyzed sequences of targeted regions in the PRSS1, SPINK1, CFTR, and CTRC genes, copy numbers of PRSS1 and SPINK1, and clinical data from medical records. RESULTS: We identified three types of pathogenic PRSS1 variants in 11 patients, including p.N29I (n=1), p.R122H (n=1), and p.G208A (n=9). Sixteen patients exhibited heterozygous pathogenic variants of SPINK1, including c.194+2T>C (n=12), p.N34S (n=3), and a novel pathogenic splicing variation c.194+1G>A. A heterozygous CFTR p.Q1352H pathogenic variant was detected in eight patients. One patient carried a heterozygous CTRC p.P249L pathogenic variant, which is a known high-risk variant for pancreatitis. All patients had normal PRSS1 and SPINK1 gene copy numbers. Weight loss occurred more frequently in patients carrying the p.G208A pathogenic variant, while pancreatic duct stones occurred more frequently in patients with the c.194+2T>C pathogenic variant. CONCLUSIONS: Pathogenic variants of PRSS1, SPINK1, and CFTR were associated with idiopathic pancreatitis, while pathogenic variants of CTRC were not. Copy number variations of PRSS1 and SPINK1 were not detected.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group/*genetics ; Carrier Proteins/*genetics ; Child ; Child, Preschool ; Chymotrypsin/*genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/*genetics ; DNA Copy Number Variations ; Female ; Heterozygote ; Humans ; Infant ; Male ; Middle Aged ; Pancreatitis, Chronic/*genetics/pathology ; Polymorphism, Genetic ; Republic of Korea ; Trypsin/*genetics ; Young Adult

1.First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome.

2.A Case of STIL-TAL1-positive T-lymphoblastic Leukemia With a Minor Philadelphia-positive Clone

3.Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray.

4.Isodicentric Chromosome 15 Syndrome in a Korean Patient With Cafe-au-lait Spots.

5.Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion.

6.Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder.

7.Concomitant AID Expression and BCL7A Loss Associates With Accelerated Phase Progression and Imatinib Resistance in Chronic Myeloid Leukemia.

8.t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia.

9.The Frequency of Unexpected Antibodies and Clinical Characteristics of Transfusion Candidates in a General Hospital During the Past 12 Years.

10.PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.

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