- Identification of marker chromosomes by reverse painting fluorescence in situ hybridization and comparative genomic hybridization
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Kang JK, Cho YH, Kyhm JH, Shin ES, Hoh JK, Chung SR
- KMID: 2272680
- Korean J Obstet Gynecol.
- 2005 Sep;48(9):2125-2139.
OBJECTIVE: Although marker chromosome is defined as an abnormal chromosome in which no part can be identified, derivative chromosomes with structural abnormalities of unknown origin are also called as marker... -
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- Four Cases of Hematologic Malignancy Following Radioactive Iodine Therapy for Thyroid Cancer
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Im M, Lee JK, Hong YJ, Hong SI, Kang HJ, Na II, Ryoo BY, Cheon GJ, Lee HN, Chang YH
- KMID: 1781576
- Korean J Lab Med.
- 2008 Dec;28(6):425-429.
- doi: 10.3343/kjlm.2008.28.6.425
Ionizing radiation including I131 might produce chromosomal translocation, causing hematologic malignancy. The incidence of leukemia following radioactive iodine treatment for thyroid cancer has been reported to be approximately 0.1 to... -
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- High Frequency of Genetic Alterations in Non-small Cell Lung Cancer Detected by Multi-target Fluorescence In Situ Hybridization
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Kang JU, Koo SH, Kwon KC, Park JW, Shin SY, Kim JM, Jung SS
- KMID: 1785788
- J Korean Med Sci.
- 2007 Sep;22(Suppl):S47-S51.
- doi: 10.3346/jkms.2007.22.S.S47
Detection of genetic alterations could provide a tool as an adjuvant for the diagnosis of non-small cell lung cancer (NSCLC) and to define patients at risk for early relapse. In... -
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- Ring Chromosome 5 in Acute Myeloid Leukemia Defined by Whole-genome Single Nucleotide Polymorphism Array
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Huh J, Mun YC, Chung WS, Seong CM
- KMID: 1380093
- Ann Lab Med.
- 2012 Jul;32(4):307-311.
- doi: 10.3343/alm.2012.32.4.307
Chromosomes forming a corresponding ring cannot be clearly defined by conventional cytogenetics or FISH. Karyotypic analyses using whole-genome single nucleotide polymorphism arrays (SNP-A) may result in the identification of previously... -
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- A De Novo Unbalanced Translocation t (5;7) (q33;p22) Carrying Partial Trisomy 5q and Partial Monosomy 7p
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Han JY, Kim KH, Hwang KG, Shaffer LG
- KMID: 2225886
- Korean J Clin Pathol.
- 1999 Jun;19(3):364-367.
Partial trisomy of the long arm of chromosome 5 distal to 5q33 is rare. Only 16 cases have so far been reported. We report on a three-year-old boy with microcephaly,... -
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- A Case of Combined Partial Monosomy 5p / Trisomy 13q Associated with Sonographic Abnormalities
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Cho SJ, Jung SW, An WS, Kim KJ, Park MH, Hwang IT
- KMID: 2269625
- Korean J Obstet Gynecol.
- 1999 May;42(5):1134-1137.
We report here a case of partial monosomy of the short arm of chromosome 5 combined with partial trisomy 13q due to reciprocal maternal translocation t[5;13]. The newborn demonstrated... -
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- Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3
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Lee EJ, Kim KJ, Kim HN, Bok J, Jung SC, Kim EK, Lee JY, Kim HL
- KMID: 1015458
- Exp Mol Med.
- 2011 Jul;43(7):393-400.
- doi: 10.3858/emm.2011.43.7.043
Granular corneal dystrophy, type II (CGD2; Avellino corneal dystrophy) is the most common corneal dystrophy among Koreans, but its pathophysiology is still poorly understood. Many reports showed that even though... -
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- An unusual combination of trisomy 21 and partial trisomy 5q
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Kim CJ, Chi JG, Lee KH, Lee CK, Yoo MS, Paik YK
- KMID: 1421942
- J Korean Med Sci.
- 1992 Dec;7(4):373-376.
- doi: 10.3346/jkms.1992.7.4.373
The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of... -
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- Isolation of polymorphic loci from the human genome using multi-locus probe pV47-2
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Nam YS, Lee HR, Han GR, Hwang JJ
- KMID: 1928224
- Korean J Leg Med.
- 1997 Oct;21(2):21-37.
Two polymorphic loci, so- called FS106 and FS185, have been isolated from the human genome, using a multilocus probe pV47-2, which is extensively used in Korea for forensic investigation such... -
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- Prenatal diagnosis of 5p deletion syndrome: A case series report
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Han YJ, Kwak DW
- KMID: 2386608
- J Genet Med.
- 2017 Jun;14(1):34-37.
- doi: 10.5734/JGM.2017.14.1.34
5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are... -
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- A Case of Pericentric Inversion of Chromosome 5(p15.1q11.2 )
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Lee SJ, Jeong JH, Cho SM
- KMID: 1967602
- J Korean Pediatr Soc.
- 2000 Oct;43(10):1404-1408.
Pericentric inversion of chromosome 5 is a rare chromosomal aberration, which has familial inheritance in a few cases. Many reports demonstrated that the phenotype is similar to the criduchat syndrome. There are... -
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- Association between Alcoholism and the Genetic Polymorphisms of the GABA(A) Receptor Genes on Chromosome 5q33-34 in Korean Population
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Park CS, Park SY, Lee CS, Sohn JW, Hahn GH, Kim BJ
- KMID: 1778440
- J Korean Med Sci.
- 2006 Jun;21(3):533-538.
- doi: 10.3346/jkms.2006.21.3.533
Family, twin, and adoption studies have demonstrated that genes play an important role in the development of alcoholism. We investigated the association between alcoholism and the genetic polymorphisms of the... -
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- A Case of Myelodysplastic Syndrome Associated with an Isolated del(5q) Chromosomal Abnormality Showing Poor Prognosis
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Chung HJ, Park CJ, Chi HS, Jang S, Seo EJ, Lee JH
- KMID: 2252267
- Korean J Hematol.
- 2007 Mar;42(1):43-47.
- doi: 10.5045/kjh.2007.42.1.43
Typical myelodysplastic syndrome (MDS) associated with isolated del(5q) consists of an interstitial deletion of the band between q13 and q33 on chromosome 5. Generally, patients with isolated deletion 5q have... -
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- Molecular biological diagnosis of Spinal Muscular atrophy
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Lee KS, Hwang HY, Lee KH, Park MS, Hahn SH, Hong CH
- KMID: 1963062
- J Genet Med.
- 1997 Sep;1(1):33-38.
Spinal muscular atrophy(SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease... -
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- Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
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Lee JH, Kim HJ, Yoon JM, Cheon EJ, Lim JW, Ko KO, Lee GM
- KMID: 2362247
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S19-S24.
- doi: 10.3345/kjp.2016.59.11.S19
Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in... -
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- Identification of tumor suppressor loci on the long arm of chromosome 5 in primary small cell lung cancers
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Cho ES, Kim HG, Cho CH, Chang J, Chung KY, Kim YS, Park JM, Kim SK, Kim SK
- KMID: 2160254
- Tuberc Respir Dis.
- 2000 Jul;49(1):49-59.
- doi: 10.4046/trd.2000.49.1.49
BACKGROUND: Recent cytogenetic studies indicated that loss of the long arm of chromosome 5 is a frequent event in small cell lung cancer (SCLC), suggesting the presence of a tumor... -
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- Genotype-Phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India
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Kesari A, Idris MM, Chandak GR, Mittal B
- KMID: 1056225
- Exp Mol Med.
- 2005 Jun;37(3):147-154.
Spinal muscular atrophy has been classified into four groups based on the age of onset and clinical severity of the disease. Homozygous deletion in SMN1 gene causes the disease but... -
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- Evaluation of prognostic factors in patients with therapy-related acute myeloid leukemia
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Park SH, Chi HS, Cho YU, Jang S, Park CJ
- KMID: 2270704
- Blood Res.
- 2013 Sep;48(3):185-192.
- doi: 10.5045/br.2013.48.3.185
BACKGROUND: Therapy-related AML (t-AML) occurs as a late complication of chemotherapy administered to treat a prior disorder. Prognostic factors affecting the clinical outcome in t-AML have not yet been clearly... -
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- Genetic Instability and Microsatellite Alterations of Chromosome 5, 8, 13, 17 in Hepatocellular Carcinoma
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Lee KB, Cho SJ, Choi SY, Kim YC, Won NH, Suh SO
- KMID: 2095998
- J Korean Surg Soc.
- 2002 Sep;63(3):220-226.
PURPOSE: Neoplastic development is a multistep process that involves the accumulation of genetic alterations in proto- oncogenes, DNA repair genes, and tumor suppressor genes. Molecular studies in carcinoma have shown... -
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