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The Relationship Between Preoperative Cervical Sagittal Balance and Clinical Outcome of Patients With Hirayama Disease Treated With Anterior Cervical Discectomy and Fusion

Lu X, Xu GY, Nie C, Zhang YX, Song J, Jiang JY

Objective: Anterior cervical discectomy and fusion (ACDF) is a common surgical method used to treat patients with Hirayama disease. And sagittal balance indexes have been revealed to be predictors of...
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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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Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome

Lee MN, Lee J, Yu HJ, Lee J, Kim SH

Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having...
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Overgrowth Syndrome with 9q22.3 Microdeletion Detected by Microarray Comparative Genomic Hybridization

Park YJ, Park SB, Kim SM, Chae YJ, Kim JD, Jung CL

Microdeletion of 9q22.3 is a rare chromosomal disorder characterized by body overgrowth, facial dysmorphic features and psychomotor delay. The presence of genomic microdeletion or microdu-plication can not be identified by...
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A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome

Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW

KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11...
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Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia

Chae H, Park J, Lee S, Kim M, Kim Y, Lee JW, Chung NG, Cho B, Jeong DC, Kim J, Kim JR, Park G

Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, associated physical malformations and a predisposition to cancer. DBA has been associated with mutations and deletions...
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Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study

Lee CG, Park SJ, Yun JN, Ko JM, Kim HJ, Yim SY, Sohn YB

PURPOSE: This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability...
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Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

Lee CG, Yun JN, Park SJ, Sohn YB

Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method...
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Prenatal Diagnosis of der(X)t(X;Y)(p22.31;q11.22) in a Male Fetus by Using Array Comparative Genomic Hybridization

Kim H, Seo EJ, Lee JO, Hong M, Shim JY, Lee BH

Xp/Yq translocations are rare chromosomal rearrangements, and the phe-notype of male carriers varies according to the segment of the Xp region that is deleted. In this case report, we describe...
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Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome

Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB

Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently...
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A Case of Near-triploidy in Myelodysplastic Syndrome with del(5q) Combined with del(1p) and del(13q)

Kim BR, Kim JE, Woo KS, Kim KH, Kim JM, Lee S, Shaffer LG, Han JY

Numerical and structural chromosomal abnormalities are common in hematological malignancies. Near-triploidy (58-80 chromosomes) is a numerical abnormality observed in 3% of adult cases of acute lymphoblastic leukemia. Near-triploidy is rare...
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Amplification of the UQCRFS1 Gene in Gastric Cancers

Jun KH, Kim SY, Yoon JH, Song JH, Park WS

  • KMID: 2372422
  • J Gastric Cancer.
  • 2012 Jun;12(2):73-80.
PURPOSE: The specific aim of this study is to unravel a DNA copy number alterations, and to search for novel genes that are associated with the development of Korean gastric...
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Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes by Chromosomal Microarray

Bae MH, Yoo HW, Lee JO, Hong M, Seo EJ

  • KMID: 2184488
  • J Genet Med.
  • 2011 Dec;8(2):119-124.
PURPOSE: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs...
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A case of terminal deletion of chromosome 10p

Cho JH, Park JE, Ko MK, Kim EJ, Park JK, Lee SA, Lee JH, Paik WY

Chromosome 10p deletion (partial monosomy 10p) is rare chromosomal disorder. It was first reported in 1970. Since then, as far as we know, about 45 patients have been described. The...
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Loss of Y Chromosome in the Malignant Peripheral Nerve Sheet Tumor of a Patient with Neurofibromatosis Type 1

Jeong SY, Park SJ, Lee SJ, Park HJ, Kim HJ

Neurofibromatosis type 1 (NF1) is one of the most commonly inherited autosomal dominant disorders. In order to determine whether genomic alterations and/or chromosomal aberrations involved in the malignant progression of...
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Replication of the Association between Copy Number Variation on 8p23.1 and Autism by Using ASD-specific BAC Array

Woo JH, Yang SJ, Yim SH, Hu HJ, Shin MJ, Oh EH, Kang HW, Park S, Chung YJ

  • KMID: 2166473
  • Genomics Inform.
  • 2010 Mar;8(1):19-27.
To discover genetic markers for autism spectrum disorder (ASD), we previously applied genome-wide BAC array comparative genomic hybridization (array-CGH) to 28 autistic patients and 62 normal controls in Korean population,...
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Genomic Alterations Detected in Colon Cancer Cell Lines by Using Array-Comparative Genomic Hybridization

Kim MJ, Park SY, Hann HJ

  • KMID: 1472482
  • Korean J Anat.
  • 2009 Dec;42(4):301-308.
Cancer development is accompanied by genetic events like losses, gains and amplification of certain chromosome regions or alterations of chromatin structure. Array-based CGH (Array-CGH) is a highly comprehensive, sensitive and...
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Partial Trisomy 1q41 Syndrome Delineated by Whole Genomic Array Comparative Genome Hybridization

Shin YB, Nam SO, Seo EJ, Kim HH, Chang CL, Lee EY, Son HC, Hwang SH

Partial trisomy 1q syndrome is a rare chromosomal abnormality. We report on a male infant with 46,XY,der(11)t(1;11)(q41;p15.5) due to unbalanced segregation of the maternal reciprocal balanced translocation 46,XX,t(1;11)(q41;p15.5). The baby...
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CGHscape: A Software Framework for the Detection and Visualization of Copy Number Alterations

Jeong YB, Kim TM, Chung YJ

  • KMID: 2166408
  • Genomics Inform.
  • 2008 Sep;6(3):126-129.
The robust identification and comprehensive profiling of copy number alterations (CNAs) is highly challenging. The amount of data obtained from high-throughput technologies such as array-based comparative genomic hybridization is often...
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Unbalanced translocation der(8)t(8:13)(p23.3;q32.1)dn identified by array CGH and subtelomeric FISH in a patient with mental retardation

Lee S, Lee D, Jeong H, Kim K, Hwang D

  • KMID: 2184450
  • J Genet Med.
  • 2008 Jun;5(1):65-68.
Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year- old woman with severe...
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