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JL1 Antigen Expression on Bone Marrow Lymphoma Cells from Patients With Non-Hodgkin Lymphoma

Kim MS, Park CJ, Cho YU, Jang S, Seo EJ, Park CS, Huh J, Im HJ, Seo JJ, Yoon DH, Suh C

BACKGROUND: JL1, a CD43 epitope and mucin family cell surface glycoprotein, is expressed on leukemic cells. An anti-JL1 antibody combined with a toxic substance can have targeted therapeutic effects against...
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Usefulness of Chromosomal Microarray in Hematologic Malignancies: A Case of Aggressive NK-cell Leukemia with 1q Abnormality

Chung YN, Kim HN, Lee SR, Sung HJ, Nam MH

A variety of clonal cytogenetic abnormalities have been reported in aggressive natural killer (NK)-cell lymphoma and leukemia. Recent chromosomal microarray studies have shown both gain and loss of 1q and...
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Genomic analysis of Korean patients with advanced prostate cancer by use of a comprehensive next-generation sequencing panel and low-coverage, whole-genome sequencing

Kang M, Cho E, Jang J, Lee J, Jeon Y, Jeong BC, Seo SI, Jeon SS, Lee HM, Choi HY, Jeon HG

PURPOSE: To analyze the characteristics of somatic mutations and copy number alterations (CNAs) in Korean patients with advanced prostate cancer (PCa) by use of the Oncomine Comprehensive Panel (ThermoFisher Scientific)...
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Chromosomal Abnormalities in Korean Fetuses with Nuchal Translucency above the 99th Percentile

Kwak DW, Boo H, Chang EH, Ryu HM, Han YJ, Chung JH, Kim MY, Yang EJ, Yoo HJ, Kim JW

OBJECTIVE: To evaluate the prevalence and distribution of chromosomal defects in Korean fetuses with nuchal translucency (NT) above the 99th percentile and to analyze them according to the degree of...
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Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormalities

Jo HC, Park JK, Baek JC, Park JE, Kang MY, Cho IA

PURPOSE: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. MATERIALS AND METHODS: This was a retrospective study of POI...
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Clinical Validation of Non-Invasive Prenatal Testing for Fetal Common Aneuploidies in 1,055 Korean Pregnant Women: a Single Center Experience

Lee DE, Kim H, Park J, Yun T, Park DY, Kim M, Ryu HM

BACKGROUND: Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility...
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Effects of paternal age on human embryo development in in vitro fertilization with preimplantation genetic screening

Kim MK, Park JK, Jeon Y, Seok SH, Chang EM, Lee WS

OBJECTIVE: As paternal age increases, the quality of sperm decreases due to increased DNA fragmentation and aneuploidy. Higher levels of structural chromosomal aberrations in the gametes ultimately decrease both the...
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T-Cell Receptor Rearrangements Determined Using Fragment Analysis in Patients With T-Acute Lymphoblastic Leukemia

Kim H, Kim IS, Chang CL, Kong SY, Lim YT, Kong SG, Cho EH, Lee EY, Shin HJ, Park HJ, Eom HS, Lee H

BACKGROUND: Chromosomal abnormalities and common genetic rearrangements related to T-acute lymphoblastic leukemia (T-ALL) are not clear. We investigated T-cell receptor (TCR) rearrangement in Korean T-ALL patients by fragment analysis, examining...
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Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review

Park JE, Park JK, Kang MY, Jo HC, Cho IA, Baek JC

About 15% to 20% of all clinically recognized pregnancies result in spontaneous abortion or miscarriage, and chromosomal anomalies can be identified in up to 50% of first trimester miscarriages. Chromosomal...
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Prediction of preeclampsia in the first trimester of pregnancy using maternal characteristics, mean arterial pressure, and uterine artery Doppler data in a Brazilian population

Leite JD, Lobo GA, Nowak PM, Antunes IR, Araujo Júnior E, Pares DB

OBJECTIVE: To evaluate the performance of the preeclampsia (PE) screening algorithm of the Fetal Medicine Foundation (FMF) during the first trimester in a Brazilian population using maternal characteristics, mean arterial...
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Hypomelanosis of Ito with Multiple Congenital Anomalies

Yu DA, Kwon O, Kim KH

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI...
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Prenatal ultrasonography of craniofacial abnormalities

Mak AS, Leung KY

Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the...
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Dose Estimation Curves Following In Vitro X-ray Irradiation Using Blood From Four Healthy Korean Individuals

Jang MA, Han EA, Lee JK, Cho KH, Shin HB, Lee YK

Cytogenetic dosimetry is useful for evaluating the absorbed dose of ionizing radiation based on analysis of radiation-induced chromosomal aberrations. We created two types of in vitro dose-response calibration curves for...
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Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age

Kim SM, Kim HH, Han YJ, Choi JS, Ryu HM, Yang S, Kim MH

OBJECTIVE: In 2007, the American College of Obstetricians and Gynecologists (ACOG) recommended that all pregnant women be offered screening or diagnostic tests for chromosomal abnormalities regardless of their age. Noninvasive...
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Central Nervous System Involvement in a Patient with Multiple Myeloma Manifesting as an Intraventricular Mass with Leptomeningeal Spread

Lee JE, Lee EJ, Huh HJ, Chung JW, Lee EK, Lee HJ

Central nervous system involvement in multiple myeloma (CNS-MM) is a rare condition. Various manifestations of CNS-MM have been reported, including dural, parenchymal, and leptomeningeal involvement. Among them, leptomeningeal involvement is...
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1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction

Kim YH, Yang JS, Lee YJ, Bae MH, Park KH, Lee DH, Shin KH, Kim SC

A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract,...
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Delayed puberty versus hypogonadism: a challenge for the pediatrician

Bozzola M, Bozzola E, Montalbano C, Stamati FA, Ferrara P, Villani A

Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty (DP), is mainly found in males, and is characterized by short stature and delayed skeletal...
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Additional cytogenetic aberrations in chronic myeloid leukemia: a single-center experience in the Middle East

Safaei A, Monabati A, Safavi M, Atashabparvar A, Hosseini M

BACKGROUND: Additional cytogenetic aberrations are associated with disease progression in chronic myeloid leukemia (CML). This study was conducted to determine the type and frequency of these aberrations and their relationship...
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Clinical and Cytogenetic Profiles of Rhabdomyosarcoma with Bone Marrow Involvement in Korean Children: A 15-Year Single-Institution Experience

Lee DH, Park CJ, Jang S, Cho YU, Seo JJ, Im HJ, Koh KN, Cho KJ, Song JS, Seo EJ

BACKGROUND: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. Alveolar RMS (ARMS) is characterized by FOXO1-related chromosomal translocations that result in a poorer clinical outcome compared with...
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Report on the External Quality Assessment Scheme for Cytogenetics and Molecular Cytogenetics in Korea (2016–2017)

Kim J, Shin S, Kim B, Lee ST, Kim M, Choi JR

In both 2016 and 2017, the cytogenetic and molecular cytogenetic programs conducted three assessments for the Korean Association of External Quality Assessment Service. A total of six cases with chromosomal...
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