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De Novo Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review

Choi J, Yoon SY, Park BG, Eun BL, Kim M, Kwon JA

No abstract available.
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Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]

Gang MH, Lee YW, Lim HH, Chang MY

Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome...
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A Case of Pediatric Acute Lymphoblastic Leukemia with Trisomy 5 as a Sole Chromosomal Anomaly: A Prognostic Significance

Cho YH, Jeon IS

We present a case of Korean pediatric patient with pre-B cell type acute lymphoblastic leukemia (ALL) with trisomy 5 as a sole cytogenetic anomaly. Here, we compare and describe the...
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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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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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Korean physicians' attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA

Kim SH, Kim KW, Han YJ, Lee SM, Lee MY, Shim JY, Cho GJ, Lee JH, Oh SY, Kwon HS, Cha DH, Ryu HM

PURPOSE: Physicians' attitudes may have a strong influence on women's decision regarding prenatal screening options. The aim of this study is to assess the physicians' attitudes toward prenatal screening for...
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A Case of Transient Myeloproliferative Disorder Associated with Clonal Trisomy 21 in a Chromosomally Normal Newborn

Park J, Hong YR, Kong SG

Transient myeloproliferative disorder (TMD) is similar to congenital leukemia, with leukocytosis, increased peripheral blast cells, and hepatomegaly in the neonatal period. Although TMD occurs only in patients with Down syndrome...
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Clinicopathological Characteristics of Hyperdiploidy with High-Risk Cytogenetics in Multiple Myeloma

Yang N, Mun YC, Seong CM, Huh HJ, Huh J

In multiple myeloma (MM), hyperdiploidy (HD) is known to impart longer overall survival. However, it is unclear whether coexistent HD ameliorates the adverse effects of known high-risk cytogenetics in MM...
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Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8

De Souza M, Vera-Lozada G, Othman M, Marques-Salles TJ, Pinto LW, da Rocha M, Rouxinol S, Liehr T, Ribeiro RC, Hassan R, Silva ML

No abstract available.
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Down syndrome with asymptomatic neuroglial cyst: A case report and review of the literature

Yang SD, Lee SJ, Lee DH, Hong YH

Down syndrome (DS, trisomy 21) is associated with neuroanatomical abnormalities, including choroid plexus cysts and various types of brain tumors. Trisomy 21 is associated with oncogenic factor, especially in brain...
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A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Report

Rim JH, Kim JA, Yoo J

Only 6 patients with partial trisomy of the long arm of chromosome 19 (19q), caused by direct interstitial duplications, have been reported until today. Herein, we report a pediatric patient...
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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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A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies

Cha DH, Lee J, Jeon YJ, Jung YW, Jang JH, Lee T, Cho EH

Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental...
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First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epigenetic marker level

Lee DE, Kim SY, Kim HJ, Park SY, Kim MH, Han YJ, Ryu HM

PURPOSE: The aim of this study was to assess the diagnostic efficacy of noninvasive prenatal screening for trisomy 18 by assessing the levels of unmethylated-maspin (U-maspin) and fetal nuchal translucency...
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Quantitative fluorescent polymerase chain reaction for rapid prenatal diagnosis of fetal aneuploidies in chorionic villus sampling in a single institution

Shin YJ, Chung JH, Kim DJ, Ryu HM, Kim MY, Han JY, Choi JS

OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women...
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Rehabilitation Treatment of a Child Diagnosed With Duplication of 1q42-q44: A Case Report

Kim SW, Kim J, Jeon HR, Park MJ, Kim Y

Trisomy 1 is a rare chromosomal anomaly and has never been reported in Korea. Clinical features of trisomy 1 include macrocephaly, prominent forehead, flat nasal bridge, low set ears, and...
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Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy

Park SY, Jang IA, Lee MA, Kim YJ, Chun SH, Park MH

OBJECTIVE: This study was designed to review the screening performance of combined test at the Ewha Womans University Mokdong hospital. METHODS: All women admitted for routine antenatal care between January 1st...
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A Case of Trisomy 9 Mosaicism Syndrome

Na YJ, Lee JH, Park MS

Trisomy 9 mosaicism syndrome was first reported by Haslam in 1973 and has been rarely reported. The severity of malformations depends on the percentage of trisomic cells. This syndrome can...
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Clinical Prognostic Factors in 86 Chinese Patients with Primary Myelodysplastic Syndromes and Trisomy 8: A Single Institution Experience

Yue QF, Chen L, She XM, Hu B, Hu Y, Zou P, Liu XY

PURPOSE: The objective was to determine the characteristics and prognostic factors of 86 Chinese patients with trisomy 8 aberrations and compare the prognostic value of International Prognostic System (IPSS) and...
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