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Trisomy 12p Syndrome Presenting with Fetal Growth Restriction and Polyhydramnios

Park JE, Ryu KJ, Nam SH, Cho GJ, Hong SC, Oh MJ, Kim HJ, Ahn KH

A 39-year-old nulliparous woman was referred at 36+6 weeks gestational age, and a prenatal fetal ultrasonography examination found fetal growth restriction (2,190 g
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Association between Ultrasonography Findings and Abnormal Karyotypes in Early Pregnancy Loss

Pae J, Park J, Kim S, Kim R, Wie J, Ko HS, Park IY, Shin JC

Objective: Chromosomal abnormality in the fetus is a major cause of early pregnancy loss (EPL). It is considered that maternal age is a risk factor of chromosomal abnormality in the...
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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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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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Prenatal diagnosis of aberrant right subclavian artery in an unselected population

Song MJ, Han BH, Kim YH, Yoon SY, Lee YM, Jeon HS, Park BK

PURPOSE: The purpose of this study was to determine the frequency of aberrant right subclavian artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal abnormalities and other...
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Male Infertility Associated with a Supernumerary Marker Chromosome

Song SH, Park SH, Shin E, Jung JH, Shim SH, Kim DS

A marker chromosome (mar) is a structurally abnormal chromosome in which no part can be identified. The significance of a marker varies, depending on the material contained within the marker....
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Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

Lee D, Park H, Kwak S, Lee S, Go S, Park S, Jo S, Kim K, Lee S, Hwang D

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a...
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Inadvertent Transmission of a Donor's Constitutional Chromosome Abnormality after Hematopoietic Stem Cell Transplantation

Yun J, Jo HH, Jeon BR, Lee YK, Kim CK, Park SK, Hong DS

A pre-transplant screening work-up of donors for allogeneic hematopoietic stem cell transplantation (HSCT) is essential. Inadvertent transmission of malignancy from donors with subclinical diseases to recipients has been reported recently...
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Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report

Kim JH, Lee GH, Cha DH, Cho EH, Jung YW

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and...
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Application of digital polymerase chain reaction technology for noninvasive prenatal test

Lee SY, Hwang SY

Recently, noninvasive prenatal test (NIPT) has been adopted as a primary screening tool for fetal chromosomal aneuploidy. The principle of NIPT lies in isolating the fetal fraction of cell-free DNA...
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Maternal antimullerian hormone as a predictor of fetal aneuploidy occurring in an early pregnancy loss

Shim SH, Ha HI, Jung YW, Shim SS, Cho YK, Kim JY, Lee KJ, Cha DH, Kim SH, Park HJ

OBJECTIVE: The purpose of the study was to examine the relationship between the parameter representing ovarian reserve and the fetal aneuploidy in early spontaneous miscarriage. METHODS: A multicenter retrospective cohort study...
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Screening ultrasonography in pregnancy

Jeong BD, Won HS

Ultrasonography in obstetrics is increasingly used for the screening of chromosomal abnormalities as well as for prenatal diagnosis of congenital abnormalities with safety and technological advancements. In the first trimester,...
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Evaluation of the genotoxicity of ginseng leaf extract UG0712

Kim JY, Ri Y, Do SG, Lee YC, Park SJ

Although ginseng (genus Panax) leaf extract contains high concentrations of bioactive constituents, its effects have been reported in few preclinical studies, and information regarding its toxicity is not sufficient to...
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Systemic Epstein-Barr Virus-Positive T-cell Lymphoproliferative Disease of Childhood Presenting as Hemophagocytic Lymphohistiocytosis with Chromosomal Abnormalities

Yang N, Chung WS, Mun YC, Huh J

Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease (EBV+ T-cell LPD) is characterized by a clonal proliferation of T-cells, which may trigger hemophagocytic lymphohistiocytosis (HLH). Chromosomal abnormalities in patients with HLH are...
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Second-trimester fetal genetic ultrasonography to detect chromosomal abnormalities

Hong SY

Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic...
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Maternal age-specific rates of fetal chromosomal abnormalities in Korean pregnant women of advanced maternal age

Kim YJ, Lee JE, Kim SH, Shim SS, Cha DH

  • KMID: 2313943
  • Obstet Gynecol Sci.
  • 2013 May;56(3):160-166.
OBJECTIVE: To evaluate the association of maternal age with occurrence of fetal chromosomal abnormalities in Korean pregnant women of advanced maternal age (AMA). METHODS: A retrospective review of the amniocentesis or...
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Analysis of Parental Decisions Based on Sex Chromosome Abnormalities Detected Prenatally: A Ten-year update (2001-2010)

An GH, Choi KH, Yang JH, Kim MY, Han JY, Park SY, Lee BY, Lee DE, Ryu HM

PURPOSE: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. MATERIALS AND METHODS: We collected...
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Lack of Mutagenicity Potential of Periploca sepium Bge. in Bacterial Reverse Mutation (Ames) Test, Chromosomal Aberration and Micronucleus Test in Mice

Zhang MS, Bang IS, Park CB

  • KMID: 2380181
  • Environ Health Toxicol.
  • 2012 ;27(1):e2012014.
OBJECTIVES: The root barks of Periploca sepium Bge. (P. sepium) has been used in traditional Chinese medicine for healing wounds and treating rheumatoid arthritis. However, toxicity in high-doses was often...
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Three-way Translocation of MLL/MLLT3, t(1;9;11)(p34.2;p22;q23), in a Pediatric Case of Acute Myeloid Leukemia

Jun KR, Lee JN, Park JA, Kim HR, Shin JH, Oh SH, Lee JY, Song SA

The chromosome band 11q23 is a common target region of chromosomal translocation in different types of leukemia, including infantile leukemia and therapy-related leukemia. The target gene at 11q23, MLL, is...
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A Case of Central Nervous System Myelomatosis with Complex Chromosome Aberrations

Bang HI, Yoo JY, Kim KH, Park R, Shin JW, Choi TY, Lee SC, Park HS, Won JH

Involvement of the central nervous system is very uncommon in multiple myeloma, observed in approximately 1% of the multiple myeloma patients. We report a case of central nervous system myelomatosis...
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