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Interphase cytogenetics of non-Hodgkin's lymphoma using non-fluorescent in situ hybridization in paraffin embedded tissue

Choi YJ, Han K, Lee W, Kang CS, Kim BK, Kim SM, Shim SI

Paraffin-embedded tissue samples from 30 cases of non-Hodgkin's lymphoma(NHL) and 10 of reactive hyperplasia, were processed for interphase cytogenetic chromosomal study. We performed non-fluorescent in situ hybridization(NFISH) using the enzymatic...
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Threshold of Nuchal Translucency for the Detection of Chromosomal Aberration: Comparison of Different Cut-offs

Kim MH, Park SH, Cho HJ, Choi JS, Kim JO, Ahn HK, Shin JS, Han JY, Kim MY, Yang JH

This study evaluated the sensitivities and false positive rates of the screening test using ultrasonographic measurement of thickness of nuchal translucency (NT) with different cut-offs for chromosomal aberration in a...
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Cytogenetic analysis of meningiomas

Cho JH, Gong GY, Yu ES, Whang CJ, Jee KJ, Lee IC

Cytogenetic analysis of 4 cases of meningiomas from 3 male and 1 female patients is reported. One of male patients suffered from neurofibromatosis type 2. Histologically, the meningiomas were...
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A De Novo Centric Fission of Chromosome 11 in a Patient with Recurrent Miscarriages

Shim SH, Lee CH, Lee JY, Shin ES, Kyhm JH, Park MI, Chung SR, Cho YH

We report on a de novo centric fission of chromosome 11 in a healthy female referred for chromosome analysis due to recurrent miscarriages. Both fission products were mitotically stable. This...
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De novo Chromosomal Aberrations in the Fetus; Genetic Counseling and Clinical Outcome

Park SY, Lee BY, Kim YM, Kim JM, Lee MH, Kim JW, Cho EH, Park JY, Lee YH, Yang JH, Kim MY, Han JY, Ryu HM

The aim of this study was to examine the incidence and clinical outcome of de novo chromosomal aberrations retrospectively and provide useful data for genetic counseling in the prenatal cytogenetic...
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Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents

Cho YG, Park TW, Lee CS, Choi SI

We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r (21) /i (21p13) mosaicism and rob (14; 21) ]. Molecular studies using...
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Parental Decisions of Prenatally Detected Sex Chromosome Abnormality

Kim YJ, Park SY, Han JY, Kim MY, Yang JH, Choi KH, Kim YM, Kim JM, Ryu HM

Because of the widespread use of amniocentesis, the prenatal recognition of sex chromosome abnormality (SCA) has become increasingly common. Recent literature provided an insight into the understanding of the natural...
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A Case with Balanced Chromosome Rearrangement Involving Chromosomes 9, 14, and 13 in a Woman with Recurrent Abortion

Kim SK, Kim HJ, Yang YH, Kim IK, Bai SW, Kim JY, Park KH, Cho DJ, Song CH

A phenotypically normal couple was referred for cytogenetic evaluation due to three consecutive first-trimester spontaneous abortions. Chromosomal analysis from peripheral blood was performed according to standard cytogenetic methods using G-banding...
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Clinical Utility of Fluorescence in-situ Hybridization Profile Test in Detecting Genetic Aberrations in Acute Leukemia

Kim SR, Kim HJ, Kim SH

BACKGROUND: Cytogenetic abnormalities are one of the most reliable prognostic factors in acute leukemia. Combination of conventional chromosome analysis (CCA) and FISH provides higher sensitivity in detecting these genetic abnormalities,...
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Molecular Cytogenetic Analysis of Gene Rearrangements in Childhood Acute Lymphoblastic Leukemia

Woo HY, Kim DW, Park H, Seong KW, Koo HH, Kim SH

The aims of this study were to estimate the incidences of BCR/ABL, MLL, TEL/AML1 rearrangements, and p16 deletions in childhood acute lymphoblastic leukemia (ALL), to identify new abnormalities, and to...
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Chromosomal aberrations in benign prostatic hyperplasia patients

Altok M, Bagci O, Umul M, Gunes M, Akyuz M, Uruc F, Uz E, Soyupek S

PURPOSE: To investigate the chromosomal changes in patients with benign prostatic hyperplasia (BPH). MATERIALS AND METHODS: A total of 54 patients diagnosed with clinical BPH underwent transurethral prostate resection to address...
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Marker Chromosomes in Korean Patients: Incidence, Identification and Diagnostic Approach

Woo HY, Cho HJ, Kong SY, Kim HJ, Jeon HB, Kim EC, Park H, Kim YJ, Kim SH

The identification of marker chromosomes is important for genetic counseling. However, the origin or composition can rarely be defined with conventional cytogenetic technique alone. In this study, we investigated the...
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Genetic Alterations in Intrahepatic Cholangiocarcinoma as revealed by Degenerate Oligonucleotide Primed PCR-Comparative Genomic Hybridization

Lee JY, Park YN, Uhm KO, Park SY, Park SH

Intrahepatic cholangiocarcinoma (ICC), a malignant neoplasm of the biliary epithelium, is usually fatal because of difficulty in early diagnosis and lack of availability of effective therapy. The genetic mechanisms involved...
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Correlation of Chromosomal Aberrations with Prognostic Markers in Multiple Myeloma Patients- A Single Institution Study

Lee JW, Lee JK, Hong YJ, Hong SI, Chang YH

BACKGROUND: Immunoglobulin heavy chain (IGH) gene rearrangement, 13q14 deletion and trisomy 1q are frequently observed in Korean patients with multiple myeloma. The purpose of our study was to analyze the...
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The Author Response: Diagnostic Standardization of Leukemia Fusion Gene Detection System using Multiplex Reverse Transcriptase-polymerase Chain Reaction in Korea

Choi HJ, Kim HR, Shin MG

No abstract available.
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Letter to the Editor: Diagnostic Standardization of Leukemia Fusion Gene Detection System using Multiplex Reverse Transcriptase-polymerase Chain Reaction in Korea

Kim MJ, Choi JR, Suh JT, Lee HJ, Lee WI, Park TS

No abstract available.
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Clinicopathologic Study of Chromosomal Aberrations in Ocular Adnexal Lymphomas of Korean Patients

Choung H, Kim YA, Kim N, Lee MJ, Khwarg SI

PURPOSE: The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported....
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Prenatal Diagnosis of Congenital Diaphragmatic Hernia in a Fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) Mosaicism: A Case Report

Ahn HY, Shin JC, Kim YH, Ko HS, Park IY, Kim SJ, Rha JG, Kim SP

Congenital diaphragmatic hernia (CDH) is often associated with major anomalies and chromosomal abnormalities. Chromosomal abnormalities are usually detected in 9.5% to 34% of fetuses with CDH prenatally diagnosed and the...
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A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

Gutierrez-Franco MdlA, Madariaga-Campos MdlL, Vasquez-Velasquez AI, Matute E, Guevara-Yanez R, Rivera H

Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks,...
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Abnormalities in Chromosomes 1q and 13 Independently Correlate With Factors of Poor Prognosis in Multiple Myeloma

Kim M, Ju YS, Lee EJ, Kang HJ, Kim HS, Cho HC, Kim HJ, Kim JA, Lee DS, Lee YK

BACKGROUND: We comprehensively profiled cytogenetic abnormalities in multiple myeloma (MM) and analyzed the relationship between cytogenetic abnormalities of undetermined prognostic significance and established prognostic factors. METHODS: The karyotype of 333 newly...
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