- A Case of Mosaic Ring Chromosome 4 with Subtelomeric 4p Deletion
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Kim JH, Oh PS, Na HY, Kim SH, Cho HC
- KMID: 1781598
- Korean J Lab Med.
- 2009 Feb;29(1):77-81.
- doi: 10.3343/kjlm.2009.29.1.77
Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a... -
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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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- 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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- Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion
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Oh DC, Min JY, Lee MH, Kim YM, Park SY, Won HS, Kim IK, Lee YH, Yoo SJ, Ryu HM
- KMID: 2157607
- J Korean Med Sci.
- 2002 Feb;17(1):125-128.
- doi: 10.3346/jkms.2002.17.1.125
Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH)... -
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- A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization
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Woo KS, Kim JE, Kim KE, Kim MJ, Yoo JH, Ahn HS, Shaffer LG, Han JY
- KMID: 1096824
- Korean J Lab Med.
- 2010 Feb;30(1):84-88.
- doi: 10.3343/kjlm.2010.30.1.84
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital... -
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- Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion
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Mun SJ, Cho EH, Chey MJ, Shim GH, Shin BM, Lee RK, Ko JK, Yoo SJ
- KMID: 1096825
- Korean J Lab Med.
- 2010 Feb;30(1):89-92.
- doi: 10.3343/kjlm.2010.30.1.89
Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here,... -
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- A Case of Central Nervous System Myelomatosis with Complex Chromosome Aberrations
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Bang HI, Yoo JY, Kim KH, Park R, Shin JW, Choi TY, Lee SC, Park HS, Won JH
- KMID: 1781637
- Korean J Lab Med.
- 2010 Aug;30(4):334-338.
- doi: 10.3343/kjlm.2010.30.4.334
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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- Deletions of 9p21 and TP53 in bladder cancer
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Park WS, Oh MJ, Lee HK, Lee KO, Rhyu MG, Dong SM, Lee JY, Kim SH
- KMID: 644955
- J Korean Med Sci.
- 1996 Jun;11(3):233-238.
- doi: 10.3346/jkms.1996.11.3.233
The objective of this study was to characterize the alterations of 9p21 and TP53 in Korean transitional bladder cancer and to assess the relationship between the histopathologic parameter and the... -
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- Identification of a Novel Deletion Region in 3q29 Microdeletion Syndrome by Oligonucleotide Array Comparative Genomic Hybridization
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Seo EJ, Jun KR, Yoo HW, Yoo HK, Lee JO
- KMID: 1096822
- Korean J Lab Med.
- 2010 Feb;30(1):70-75.
- doi: 10.3343/kjlm.2010.30.1.70
BACKGROUND: The 3q29 microdeletion syndrome is a genomic disorder characterized by mental retardation, developmental delay, microcephaly, and slight facial dysmorphism. In most cases, the microdeletion spans a 1.6-Mb region between... -
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- Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion
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Kim SM, Chung KW, Choi BO, Yoon ES, Choi JY, Park KD, Sunwoo IN
- KMID: 755662
- Exp Mol Med.
- 2004 Feb;36(1):28-35.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent pressure palsies. Most HNPP patients have a 1.5 mb deletion in chromosome 17p11.2-p12.... -
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- A Case of Refractory Thrombocytopenia with 5q Deletion: Myelodysplastic Syndrome Mimicking Idiopathic Thrombocytopenic Purpura
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Chang J, Park CJ, Seo EJ, Lee JH, Park SH, Cho YU, Jang S
- KMID: 2129573
- Ann Lab Med.
- 2014 Nov;34(6):466-468.
- doi: 10.3343/alm.2014.34.6.466
No abstract available. -
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- A Case of del(16)(q22) in a Patient with Acute Myeloid Leukemia with Complex Karyotype
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Kim M, Lee JW, Lee JK, Hong YJ, Hong SI, Kang HJ, Cho EH, Chang YH
- KMID: 1781636
- Korean J Lab Med.
- 2010 Aug;30(4):329-333.
- doi: 10.3343/kjlm.2010.30.4.329
Inversion of chromosome 16 [inv(16)(p13.1q22)] and t(16;16)(p13.1;q22) are associated with acute myelomonocytic leukemia (AMML) with eosinophilia and a favorable prognosis. On the other hand, patients with del(16)(q22) usually present with... -
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- Evaluation of a Multiplex PCR Kit Used for Detecting Y Chromosome Microdeletions
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Park MY, Kang HM, Hwang SH, Park HJ, Park NC, Choi KU, Kim HH, Chang CL, Lee EY
- KMID: 1781651
- Korean J Lab Med.
- 2010 Aug;30(4):432-439.
- doi: 10.3343/kjlm.2010.30.4.432
BACKGROUND: In addition to Klinefelter's syndrome, microdeletion of Yq is the most common genetic cause of male infertility; 15% of azoospermic or 5-10% of oligozoospermic males have Yq deletions. We... -
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- Comparing Two Diagnostic Laboratory Tests for Several Microdeletions Causing Mental Retardation Syndromes: Multiplex Ligation-Dependent Amplification vs Fluorescent In Situ Hybridization
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Cho EH, Park BY, Cho JH, Kang YS
- KMID: 1781597
- Korean J Lab Med.
- 2009 Feb;29(1):71-76.
- doi: 10.3343/kjlm.2009.29.1.71
BACKGROUND: Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure... -
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- Persistent suboptimal molecular response in a patient with chronic myelogenous leukemia and Klinefelter syndrome
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Chakraborty R, Mukkamalla SKR, Singam K, Calderon N
- KMID: 2070143
- Korean J Intern Med.
- 2014 Nov;29(6):827-829.
- doi: 10.3904/kjim.2014.29.6.827
No abstract available. -
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- A Case of Near-triploidy in Myelodysplastic Syndrome with del(5q) Combined with del(1p) and del(13q)
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Kim BR, Kim JE, Woo KS, Kim KH, Kim JM, Lee S, Shaffer LG, Han JY
- KMID: 1380090
- Ann Lab Med.
- 2012 Jul;32(4):294-297.
- doi: 10.3343/alm.2012.32.4.294
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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- Chromosomal Losses are Associated with Hypomethylation of the Gene-Control Regions in the Stomach with a Low Number of Active Genes
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Jung YC, Hong SJ, Kim YH, Kim SJ, Kang SJ, Choi SW, Rhyu MG
- KMID: 1107535
- J Korean Med Sci.
- 2008 Dec;23(6):1068-1089.
- doi: 10.3346/jkms.2008.23.6.1068
Transitional-CpG methylation between unmethylated promoters and nearby methylated retroelements plays a role in the establishment of tissue-specific transcription. This study examined whether chromosomal losses reducing the active genes in cancers... -
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