- A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Report
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Rim JH, Kim JA, Yoo J
- KMID: 2418909
- Yonsei Med J.
- 2017 Nov;58(6):1241-1244.
- doi: 10.3349/ymj.2017.58.6.1241
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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- Clinical and Molecular Delineation of a Novel De Novo 4q28.3-31.21 Interstitial Deletion in a Patient with Developmental Delay
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Rim JH, Kim SW, Han SH, Yoo J
- KMID: 2345909
- Yonsei Med J.
- 2015 Nov;56(6):1742-1744.
- doi: 10.3349/ymj.2015.56.6.1742
No abstract available. -
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- Diagnostic Utility of Multiprobe Fluorescence in situ Hybridization Assay for Detecting Cytogenetic Aberrations in Acute Leukemia
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Kim BR, Choi JL, Kim JE, Woo KS, Kim KH, Kim JM, Kim SH, Han JY
- KMID: 1791920
- Ann Lab Med.
- 2014 May;34(3):198-202.
- doi: 10.3343/alm.2014.34.3.198
BACKGROUND: Specific cytogenetic aberrations detected by conventional karyotyping or FISH play a major role in the diagnosis, prognosis, and treatment of patients with acute leukemia. The FISH technique enhances the... -
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- The application of an in situ karyotyping technique for mesenchymal stromal cells: a validation and comparison study with classical G-banding
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Hwang SM, See CJ, Choi J, Kim SY, Choi Q, Kim JA, Kwon J, Park SN, Im K, Oh IH, Lee DS
- KMID: 2154287
- Exp Mol Med.
- 2013 Dec;45(12):e68.
The cytogenetic analysis of mesenchymal stromal cells (MSCs) is essential for verifying the safety and stability of MSCs. An in situ technique, which uses cells grown on coverslips for karyotyping... -
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- Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3
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Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH
- KMID: 1096661
- Korean J Lab Med.
- 2011 Jan;31(1):49-53.
- doi: 10.3343/kjlm.2011.31.1.49
Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by... -
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- Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review
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Ryu SW, Lee G, Baik CS, Shim SH, Kim JT, Lee JS, Lee KA
- KMID: 1096808
- Korean J Lab Med.
- 2010 Apr;30(2):195-200.
- doi: 10.3343/kjlm.2010.30.2.195
We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features... -
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- Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
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Xie CH, Yang JB, Gong FQ, Zhao ZY
- KMID: 724268
- Yonsei Med J.
- 2008 Jun;49(3):500-502.
- doi: 10.3349/ymj.2008.49.3.500
We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as... -
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- Molecular Cytogenetic Analysis of Gene Rearrangements in Childhood Acute Lymphoblastic Leukemia
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Woo HY, Kim DW, Park H, Seong KW, Koo HH, Kim SH
- KMID: 1781721
- J Korean Med Sci.
- 2005 Feb;20(1):36-41.
- doi: 10.3346/jkms.2005.20.1.36
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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- Prenatal detection of de novo inversion of chromosome 9 with duplicated heterochromatic region and postnatal follow-up
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Kim JJ, Rhee HS, Chung YT, Park SY, Choi SK
- KMID: 755041
- Exp Mol Med.
- 1999 Sep;31(3):134-136.
We report the first de novo case of a heterochromatic duplication on the long arm of the chromosome 9, which then was pericentrically inverted at p11q13. This condition was detected prenatally and... -
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- Analysis of Marker Chromosomes in Renal Cell Carcinoma Cell Line Caki-1 by Chromosome Microdissection
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Shin JS, Park SY, Chun YH, Park SH
- KMID: 1563740
- Korean J Urol.
- 1998 Mar;39(3):205-212.
PURPOSE: The analysis of recurring chromosome aberrations has become an integral part of the diagnostic and prognostic workup of many human cancers, and their molecular analyses have facilitated the... -
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- Construction and Application of Painting Probe for Chromosome Band 1p36.1, 7q11, 7q32-34, 17q12-21
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Kim KH, Park SY, Jeon YH, Park SH
- KMID: 2075422
- Korean J Obstet Gynecol.
- 1998 Feb;41(2):433-440.
Chromosome microdissection has become a very powerful approach to generate chromosome band-specific library and painting probes for physical mapping or cytogenetic analysis. Here we have constructed the band-specific painting probes... -
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- Immunohistochemical characteristics of colorectal carcinoma with DNA replication errors
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Kim H, Jung JK, Park JH, Park C
- KMID: 644941
- J Korean Med Sci.
- 1996 Apr;11(2):137-143.
- doi: 10.3346/jkms.1996.11.2.137
It has recently been shown that nearly all cancers from hereditary nonpolyposis colorectal cancer syndrome (HNPCC), as well as a subset of sporadic colorectal cancers, have DNA replication errors (RER)... -
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- Detection of chromosome aberrations in interphase nuclei using fluorescence in situ hybridization technique
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Song HG, Choi SO, Kang IB
- KMID: 2157508
- J Korean Med Sci.
- 1993 Aug;8(4):257-261.
- doi: 10.3346/jkms.1993.8.4.257
We report here several experiences of interphase cytogenetics, using fluorescence in situ hybridization (FISH) technique, for the detection of chromosome aberrations. FISH, using alpha satellite specific probes of 18, X,... -
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