- Marker Chromosomes in Korean Patients: Incidence, Identification and Diagnostic Approach
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Woo HY, Cho HJ, Kong SY, Kim HJ, Jeon HB, Kim EC, Park H, Kim YJ, Kim SH
- KMID: 1086730
- J Korean Med Sci.
- 2003 Dec;18(6):773-778.
- doi: 10.3346/jkms.2003.18.6.773
The identification of marker chromosomes is important for genetic counseling. However, the origin or composition can rarely be defined with conventional cytogenetic technique alone. In this study, we investigated the... -
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- A Case with Balanced Chromosome Rearrangement Involving Chromosomes 9, 14, and 13 in a Woman with Recurrent Abortion
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Kim SK, Kim HJ, Yang YH, Kim IK, Bai SW, Kim JY, Park KH, Cho DJ, Song CH
- KMID: 720632
- Yonsei Med J.
- 2001 Jun;42(3):345-348.
- doi: 10.3349/ymj.2001.42.3.345
A phenotypically normal couple was referred for cytogenetic evaluation due to three consecutive first-trimester spontaneous abortions. Chromosomal analysis from peripheral blood was performed according to standard cytogenetic methods using G-banding... -
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- Loss of Heterozygosity on Chromosomes 3p,8p,9p and 17p in the Progression of Squamous Cell Carcinoma of the Larynx
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Yoo WJ, Cho SH, Lee YS, Park GS, Kim MS, Kim BK, Park WS, Lee JY, Kang CS
- KMID: 1786810
- J Korean Med Sci.
- 2004 Jun;19(3):345-351.
- doi: 10.3346/jkms.2004.19.3.345
Previous molecular genetic studies of laryngeal squamous cell carcinoma (SCC)have shown certain chromosomal regions with recurring alterations. But studies of sequential molecular alterations and genetic progression model of laryngeal SCC... -
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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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- Loss of heterozygosity on chromosome 10, 13q(Rb), 17p, and p53 gene mutations in human brain gliomas
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Lee SH, Kim JH, Rhee CH, Kang YS, Lee JH, Hong SI, Choi KS
- KMID: 927177
- J Korean Med Sci.
- 1995 Dec;10(6):442-448.
- doi: 10.3346/jkms.1995.10.6.442
Using the methods of restriction fragment length polymorphism (RFLP) and single strand conformation polymorphism (SSCP) analyses, we have examined 33 cases of human gliomas with various malignant grades to detect... -
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- Acute Lymphoblastic Leukemia with Mature B-Cell Phenotype and t(9;11;11)(p22;q23;p11.2): A Case Study and Literature Review
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Kim B, Lee ST, Kim HJ, Lee SH, Yoo KH, Koo HH, Kim SH
- KMID: 1791914
- Ann Lab Med.
- 2014 Mar;34(2):166-169.
- doi: 10.3343/alm.2014.34.2.166
No abstract available. -
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- Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
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Kim YH, Kim HS, Ryoo NH, Ha JS
- KMID: 1781301
- Ann Lab Med.
- 2013 Jan;33(1):69-74.
- doi: 10.3343/alm.2013.33.1.69
We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from... -
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- Congenital Monoblastic Leukemia with 9;11 Translocation in Monozygotic Twins: A Case Report
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Park SY, Jang JJ, Kim CW, Cho HI, Chi JG
- KMID: 1129914
- J Korean Med Sci.
- 2001 Jun;16(3):366-370.
- doi: 10.3346/jkms.2001.16.3.366
We report an autopsy case of congenital monoblastic leukemia that developed in monozygotic twins. The twin presented with progressive hepatosplenomegaly at 4 weeks after birth. One twin died of massive... -
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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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- Incidence and Clinical Significance of Sex Chromosome Losses in Bone Marrow of Patients with Hematologic Diseases
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Huh J, Moon H, Chung WS
- KMID: 1121661
- Korean J Lab Med.
- 2007 Feb;27(1):56-61.
- doi: 10.3343/kjlm.2007.27.1.56
BACKGROUND: Loss of sex chromosomes in bone marrow is observed both in elderly persons as an aging phenomenon and in patients with hematologic malignancies. The purpose of this study... -
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- A Case of Male Infertility with a Reciprocal Translocation t(X;14)(p11.4;p12)
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Hwang SH, Lee SM, Seo EJ, Choi KU, Park HJ, Park NC, Choi J, Lee EY
- KMID: 1781474
- Korean J Lab Med.
- 2007 Apr;27(2):139-142.
- doi: 10.3343/kjlm.2007.27.2.139
A chromosomal abnormality was found in about 3.6-7.6% of males presenting with azoospermia or oligospermia. Translocations between X chromosome and autosomes are rarely seen genetic disorders that cause male infertility.... -
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- Clinicopathologic Study of Chromosomal Aberrations in Ocular Adnexal Lymphomas of Korean Patients
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Choung H, Kim YA, Kim N, Lee MJ, Khwarg SI
- KMID: 2363801
- Korean J Ophthalmol.
- 2015 Oct;29(5):285-293.
- doi: 10.3341/kjo.2015.29.5.285
PURPOSE: The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported.... -
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- Rapid Prenatal Detection of Down and Edwards Syndromes by Fluorescent Polymerase Chain Reaction with Short Tandem Repeat Markers
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Yoon HR, Park YS, Kim YK
- KMID: 1728847
- Yonsei Med J.
- 2002 Oct;43(5):557-566.
- doi: 10.3349/ymj.2002.43.5.557
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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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- A Rare Case of Acute Lymphoblastic Leukemia with t(12;17)(p13;q21)
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Kim JE, Woo KS, Kim KE, Kim SH, Park JI, Shaffer LG, Han JY
- KMID: 1781621
- Korean J Lab Med.
- 2010 Jun;30(3):239-243.
- doi: 10.3343/kjlm.2010.30.3.239
Patients with ALL rarely present with t(12;17)(p13;q21) as the primary clonal abnormality; this abnormality is associated with the expression of myeloid antigens. In this study, we have reported presumably the... -
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- First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome
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Yu N, Shin S, Lee KA
- KMID: 2363196
- Ann Lab Med.
- 2015 Mar;35(2):275-278.
- doi: 10.3343/alm.2015.35.2.275
No abstract available. -
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- A Case of Partial Trisomy 9pter --> q13 due to Paternal Balanced Translocation t (9;21) (q13;q21)
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Woo KS, Kim KE, Kwon EY, Kim JP, Han JY
- KMID: 854855
- Korean J Lab Med.
- 2008 Apr;28(2):155-159.
- doi: 10.3343/kjlm.2008.28.2.155
Trisomy 9p is one of the most frequent autosomal anomalies compatible with a long survival rate. Clinical characteristics are craniofacial dysmorphisms including hypertelorism, prominent nose, deepset eyes, and down-slanting palpebral... -
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- A Rare Case of Microgranular Acute Promyelocytic Leukemia Associated with ider(17)(q10)t(15;17) in an Old-age Patient
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Kim MJ, Cho SY, Lim G, Yoon HS, Lee HJ, Suh JT, Lee J, Lee WI, Cho KS, Park TS
- KMID: 1094345
- Korean J Lab Med.
- 2011 Apr;31(2):86-90.
- doi: 10.3343/kjlm.2011.31.2.86
We present a rare case of microgranular variant acute promyelocytic leukemia (APL) associated with ider(17)(q10)t(15;17)(q22;q12) of an old-age patient. The initial chromosome study showed a 46,XX,del(6)(?q21q25),der(15)t(15;17)(q22;q12),ider(17)(q10)t(15;17)[10]/47,sl,+ider(17)(q10)t(15;17)[3]/46,XX[16]. FISH signals from a... -
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- Correlation of Chromosomal Aberrations with Prognostic Markers in Multiple Myeloma Patients- A Single Institution Study
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Lee JW, Lee JK, Hong YJ, Hong SI, Chang YH
- KMID: 1781574
- Korean J Lab Med.
- 2008 Dec;28(6):413-418.
- doi: 10.3343/kjlm.2008.28.6.413
BACKGROUND: Immunoglobulin heavy chain (IGH) gene rearrangement, 13q14 deletion and trisomy 1q are frequently observed in Korean patients with multiple myeloma. The purpose of our study was to analyze the... -
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- 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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