- De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl
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Sánchez-Casillas AL, Rivera H, Castro-MartÃnez AG, GarcÃa-Ortiz JE, Córdova-Fletes C, Mendoza-Pérez P
- KMID: 2373623
- Ann Lab Med.
- 2017 Jan;37(1):88-91.
- doi: 10.3343/alm.2017.37.1.88
No abstract available. -
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- A Novel KIT INDEL Mutation in Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1
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Lee JH, Park C, Kim SH, Shin MG
- KMID: 2373559
- Ann Lab Med.
- 2016 Jul;36(4):371-374.
- doi: 10.3343/alm.2016.36.4.371
No abstract available. -
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- Clinical Prognostic Factors in 86 Chinese Patients with Primary Myelodysplastic Syndromes and Trisomy 8: A Single Institution Experience
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Yue QF, Chen L, She XM, Hu B, Hu Y, Zou P, Liu XY
- KMID: 2374040
- Yonsei Med J.
- 2016 Mar;57(2):358-364.
- doi: 10.3349/ymj.2016.57.2.358
PURPOSE: The objective was to determine the characteristics and prognostic factors of 86 Chinese patients with trisomy 8 aberrations and compare the prognostic value of International Prognostic System (IPSS) and... -
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- A t(8;9)(p22;p24)/PCM1-JAK2 Translocation in a Patient With Myeloproliferative Neoplasm and Myeloid Sarcoma: First Report in Korea
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Song I, Lee DH, Lee JH, Jang S, Huh JR, Seo EJ
- KMID: 2373505
- Ann Lab Med.
- 2016 Jan;36(1):79-81.
- doi: 10.3343/alm.2016.36.1.79
No abstract available. -
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- A Case of Systemic Mastocytosis Associated with Acute Myeloid Leukemia Terminating as Aleukemic Mast Cell Leukemia after Allogeneic Hematopoietic Stem Cell Transplantation
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Bae MH, Kim HK, Park CJ, Seo EJ, Park SH, Cho YU, Jang S, Chi HS, Lee KH
- KMID: 1781312
- Ann Lab Med.
- 2013 Mar;33(2):125-129.
- doi: 10.3343/alm.2013.33.2.125
In up to 40% of systemic mastocytosis (SM) cases, an associated clonal hematological non-mast cell lineage disease such as AML is diagnosed before, simultaneously with, or after the diagnosis of... -
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- MYC Rearrangement Involving a Novel Non-immunoglobulin Chromosomal Locus in Precursor B-cell Acute Lymphoblastic Leukemia
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Seo JY, Lee SH, Kim HJ, Yoo KH, Koo HH, Cho YG, Choi SI, Kim SH
- KMID: 1380089
- Ann Lab Med.
- 2012 Jul;32(4):289-293.
- doi: 10.3343/alm.2012.32.4.289
MYC rearrangement, a characteristic cytogenetic abnormality of Burkitt lymphoma and several subsets of other mature B-cell neoplasms, typically involves an immunoglobulin gene partner. Herein, we describe a case of precursor... -
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- Genetic aberrations on the short arm of chromosome 8 (8p) in tongue carcinomas
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Murano A, Ono K, Koike H, Endo Y, Shimada K, Kawasaki K, Nomura H, Shiiba M, Uzawa K, Tanzawa H
- KMID: 2189713
- J Korean Assoc Oral Maxillofac Surg.
- 2012 Apr;38(2):121-126.
- doi: 10.5125/jkaoms.2012.38.2.121
Aberrations on the short arm of chromosome 8 (8p) are frequently observed in several human cancers. In this study, 20 squamous cell carcinoma (SCC) specimens from the tongue were examined... -
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- A Case of B-cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-cell Lymphoma and Burkitt Lymphoma in a Korean Child
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Ahn JY, Seo YH, Park PW, Kim KH, Park MJ, Jeong JH, Park SH, Song YH
- KMID: 1245258
- Ann Lab Med.
- 2012 Mar;32(2):162-166.
- doi: 10.3343/alm.2012.32.2.162
B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL) (intermediate DLBCL/BL), is a heterogeneous group with some features resembling DLBCL and others resembling... -
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- Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22
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Oh AR, Lee BY, Choi EY, Ryu HM, Lee SJ, Jung JY, Park SY
- KMID: 2184491
- J Genet Med.
- 2011 Dec;8(2):135-138.
The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred... -
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- The general anesthesia experience of deletion 8p syndrome patient: A case report
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Shin WJ, Kim SD, Kim KH
- KMID: 1766776
- Korean J Anesthesiol.
- 2011 Oct;61(4):332-335.
- doi: 10.4097/kjae.2011.61.4.332
A deletion 8p syndrome is a relatively uncommon congenital disease characterized by mental retardation associated with multiple malformation that make anesthetic management a challenge. Anesthetic management of a patient with... -
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- Spectra of Chromosomal Aberrations in 325 Leukemia Patients and Implications for the Development of New Molecular Detection Systems
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Choi HJ, Kim HR, Shin MG, Kook H, Kim HJ, Shin JH, Suh SP, Ryang DW
- KMID: 1094259
- J Korean Med Sci.
- 2011 Jul;26(7):886-892.
- doi: 10.3346/jkms.2011.26.7.886
This study investigated the spectrum of chromosomal abnormalities in 325 leukemia patients and developed optimal profiles of leukemic fusion genes for multiplex RT-PCR. We prospectively analyzed blood and bone marrow... -
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- A Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype
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Kang HS, Son YS, Kim SY, Park CM, Shim SS
- KMID: 1851094
- J Genet Med.
- 2011 Jun;8(1):67-70.
- doi: 10.5734/JGM.2011.8.1.67
Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare aneuploidy in humans with characteristic phenotypes including typical craniofacial feature (such as deformed skull, prominent forehead, low-set and/or dysplastic ears), skeletal... -
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- Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
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Park CH, Lee MJ, Kim HJ, Lee G, Park JW, Cinn YW
- KMID: 1792911
- J Korean Med Sci.
- 2010 Dec;25(12):1818-1820.
- doi: 10.3346/jkms.2010.25.12.1818
Acrodermatitis enteropathica (AE) is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia. AE is known to be caused by mutations of the SLC39A4 gene... -
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- Aplastic Anemia with Trisomy 8 and Trisomy 9 in Intestinal Behcet's Disease
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Chung JW, Cheon JH, Lee KJ, Kim JS, Jang SJ, Yang WI, Kim TI, Kim WH
- KMID: 1792777
- Korean J Gastroenterol.
- 2010 Apr;55(4):256-260.
- doi: 10.4166/kjg.2010.55.4.256
Behcet's disease is a multisystemic inflammatory disease characterized with recurrent oral ulcer, genital ulcer, and multiple organ involvement. Aplastic anemia is one of the rarest complications of Behcet's disease. There... -
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- Near-tetraploidy Acute Myeloid Leukemia with RUNX1-RUNX1T1 Rearrangement Due to Cryptic t(8;21)
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Im M, Lee JK, Lee DY, Hong YJ, Hong SI, Kang HJ, Chang YH
- KMID: 1781603
- Korean J Lab Med.
- 2009 Dec;29(6):510-514.
- doi: 10.3343/kjlm.2009.29.6.510
Tetraploidy or near-tetraploidy is a rare cytogenetic abnormality found in AML, and is divided into primary and secondary forms. The secondary tetraploidy or near-tetraploidy found in AML is known to... -
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- A Case of Behcet's Disease Associated with Myelodysplastic Syndrome
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Min JA, Kim JE, Oh ST, Cho SG, Cho BK, Park HJ
- KMID: 2247754
- Korean J Dermatol.
- 2009 Nov;47(11):1309-1313.
Behcet's disease (BD) is a multisystemic inflammatory disease that affects various organs and it causes mucocutaneous lesions. BD is only rarely associated with leukemia or other hematologic disorders. Many cases... -
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- Detection of PML/RARA Rearrangement by Reverse Transcriptase-PCR and Sequencing in a Case of Microgranular Acute Promyelocytic Leukemia Lacking t(15;17) on Karyotype and FISH
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Kim KE, Woo KS, Kim SH, Han JY
- KMID: 1077411
- Korean J Lab Med.
- 2009 Oct;29(5):379-383.
- doi: 10.3343/kjlm.2009.29.5.379
We report a case of morphologically microgranular acute promyelocytic leukemia with PML/RARA fusion transcripts demonstrated by reverse transcriptase-PCR and cDNA sequencing, and no PML/RARA fusion detected by karyotype and FISH... -
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- De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
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Lee SM, Park MS, Park KI, Namgung R, Lee C, Lee JS, Lee KA, Choi JR
- KMID: 2281465
- Korean J Pediatr.
- 2009 May;52(5):603-606.
- doi: 10.3345/kjp.2009.52.5.603
The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic... -
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- A Case of a del(8p)/dup(8q) Recombinant Chromosome
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Kim JY, Im HB, Son SH, Jeong SY, Sung MJ, Seo SS
- KMID: 2144510
- J Korean Soc Neonatol.
- 2009 May;16(1):76-80.
A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis.... -
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- Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia
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Kim J, Park TS, Song J, Lee KA, Lee SG, Cheong JW, Choi JR
- KMID: 854887
- Korean J Lab Med.
- 2008 Aug;28(4):262-266.
- doi: 10.3343/kjlm.2008.28.4.262
Trisomy 8 is one of the most frequent numerical chromosomal abnormalities observed in hematological malignancies, whereas tetrasomy 8 is a clonal aberration seen mainly in myeloid disorders such as acute... -
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