- 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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- A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report
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Park DH, Lim S, Park ES, Sim EG
- KMID: 2165785
- Ann Rehabil Med.
- 2013 Apr;37(2):291-294.
- doi: 10.5535/arm.2013.37.2.291
Isodicentric chromosome 15 [idic(15)] is a rare chromosomal abnormality that occurs due to inverted duplication of chromosome 15q. It is associated with many clinical findings such as early central hypotonia,... -
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- Clinical and Cytogenetic Analysis of Children with Maternal Chromosomal Balanced Translocation
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Lim HH, Jeong HJ, Park KD, Kim SJ
- KMID: 1855958
- Korean J Pediatr.
- 2005 Jul;48(7):701-705.
PURPOSE: Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their... -
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- 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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- A case of prenatally diagnosed Non-15, Non-22 marker chromosome
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Song SR, Song JH, Song JH, Jung YW, Lee SS, Kim MH
- KMID: 2272554
- Korean J Obstet Gynecol.
- 2005 Feb;48(2):480-483.
Midtrimester genetic amniocentesis is an important diagnostic tool in prenatal genetic diagnosis and counseling. We can identify karyotypes with metaphase chromosome analysis of cultured amniocytes. Marker chromosomes are defined as... -
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- A Case of Prader-Willi Syndrome with an Unusually Large 15q Deletion Due to an Unbalanced Translocation to Chromosome 2 45,XX,-15, der(2) t(2;15)(q37:q13)
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Kim JK, Paek H, Yoo EJ, Jung K, Sun KK, Kim EY, Kim KS, Kim YW, Kim YS
- KMID: 1750726
- J Korean Soc Neonatol.
- 2007 Nov;14(2):247-252.
Prader-Willi syndrome is a disease of chromosome 15, which is characterized by severe hypotonia and feeding difficulty in neonates, followed by development of obesity, mental retardation, and hypogonadism. Approximately 70%... -
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- The t (15;17) Breakpoint of the PML Gene in Acute Promyelocytic Leukemia
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Park SS, Cho HI
- KMID: 2146191
- Korean J Clin Pathol.
- 1997 Dec;17(6):885-897.
BACKGROUND: The characteristic t(15; 17) of acute promyelocytic leukemia (APL) fuses the retinoic acid receptor alpha (RARA) gene on chromosome 17 to the PML gene on chromosome 15. The test... -
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- Novel PML-RARA Fusion Gene on Chromosome 17 in Acute Promyelocytic Leukemia with Normal Chromosome 15 and 17
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Kim KH, Won JH, Jeung KJ, Lee SC, Kim HJ, Bae SB, Kim CK, Lee NS, Lee KT, Park SK, Hong DS, Park HS, Lee YK
- KMID: 2305207
- Korean J Hematol.
- 2007 Sep;42(3):296-300.
- doi: 10.5045/kjh.2007.42.3.296
We describe a patient with acute promyelocytic leukemia (APL) with no detectable cytogenetic abnormality of either chromosomes 15 or 17 who nevertheless had juxtaposition of promyelocytic leukemia (PML) and retinoic... -
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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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- Real-time PCR analysis of the apoptosis related genes in ATRA treated APL t(15;17) patients
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Savli H, Sirma S, Nagy B, Aktan M, Dincol G, Ozbek U
- KMID: 1093619
- Exp Mol Med.
- 2003 Oct;35(5):454-459.
All-trans retinoic acid (ATRA) treatment of the acute promyelocytic leukemia (APL) have subsequently resulted in cell apoptosis, but the molecular mechanism of this effect remains elusive. In order to understand... -
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- Isodicentric Chromosome 15 Syndrome in a Korean Patient With Cafe-au-lait Spots
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Rim JH, Chung HJ, Shin S, Park SJ, Choi JR
- KMID: 2045876
- Ann Lab Med.
- 2015 Jul;35(4):474-476.
- doi: 10.3343/alm.2015.35.4.474
No abstract available. -
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- Combined Genome-Wide Linkage and Association Analyses of Fasting Glucose Level in Healthy Twins and Families of Korea
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Suh YJ, Kim S, Kim SH, Park J, Lim HA, Park HJ, Choi H, Ng D, Lee MK, Nam M
- KMID: 1786940
- J Korean Med Sci.
- 2013 Mar;28(3):415-423.
- doi: 10.3346/jkms.2013.28.3.415
This study was undertaken to identify genetic polymorphisms that are associated with the risk of an elevated fasting glucose (FG) level using genome-wide analyses. We explored a quantitative trait locus... -
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- Prader-Willi Syndrome with Hypogonadism
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Lee GH
- KMID: 2298630
- Korean J Androl.
- 2011 Apr;29(1):85-87.
- doi: 10.5534/kja.2011.29.1.85
Prader-Willi syndrome (PWS) is a rare genetic disease caused by a deletion or disruption of genes in chromosome 15. Commonly associated characteristics of this disorder include obesity, mental retardation, short... -
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- Prevalence of FLT3 Internal Tandem Duplication in Adult Acute Myelogenous Leukemia
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Lee JN, Kim HR, Shin JH, Joo YD
- KMID: 1781490
- Korean J Lab Med.
- 2007 Aug;27(4):237-243.
- doi: 10.3343/kjlm.2007.27.4.237
BACKGROUND: fms-like tyrosine kinase (FLT3), a member of the class III receptor tyrosine kinases, regulates the proliferation and differentiation of hematopoietic stem cells. An internal tandem duplication of the... -
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- A Case of Prader-Willi Syndrome with Diabetes Mellitus
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Choi HR, Choi EH, Jang SH, Ahn YM
- KMID: 2335114
- J Korean Pediatr Soc.
- 1994 Apr;37(4):565-572.
Prader-Willi syndrome is characterized by infantile hypotonia, mental retardation, hyperhagia, hypogonadism and obesity. Approximately 60% of all PLW syndrome show an interstitial deletion of chromosome 15, 37% have apparently normal... -
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- Real-Time PCR analysis of af4 and dek genes expression in acute promyelocytic leukemiat (15;17)patients
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Savli H, Sirma S, Nagy B, Aktan M, Dincol G, Salcioglu , Sarper N, Ozbek U
- KMID: 1097111
- Exp Mol Med.
- 2004 Jun;36(3):279-282.
Among several newly identified oncogenes, dek and af4 are attractive targets for researchers interested with leukemia. In this study quantitative Real-Time RT-PCR technique was used to define alterations in expression... -
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- A case of de novo duplication of 15q24-q26.3
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Kim EY, Kim YK, Kim MK, Jung JM, Jeon GW, Kim HR, Sin JB
- KMID: 2073642
- Korean J Pediatr.
- 2011 Jun;54(6):267-271.
- doi: 10.3345/kjp.2011.54.6.267
Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck,... -
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- A Case of Angelman Syndrome
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Park JC, Kim HD, Lee SH
- KMID: 2177098
- J Korean Child Neurol Soc.
- 1999 May;6(2):359-364.
Angelman syndrome is a rare genetic disorder characterized by developmental delay, speech impairment, ataxic gait, paroxysmal laughter, and seizures. The diagnosis is suspected in infants who have the characteristic clinical... -
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- Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus
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Lee D, Park H, Kwak S, Lee S, Go S, Park S, Jo S, Kim K, Lee S, Hwang D
- KMID: 2369026
- J Genet Med.
- 2016 Dec;13(2):95-98.
- doi: 10.5734/JGM.2016.13.2.95
We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a... -
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- Detection of Long and Short isoforms of PML-RARA mRNA by RT-PCR in Acute Promyelocytic Leukemia
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Lee EY, Jeong YS, Lee JN, Han JY, Jun ES, Jeong JS, Cho GJ
- KMID: 1849142
- Korean J Hematol.
- 1998 Oct;33(3):385-397.
BACKGROUND: Chromosomal translocation t (15 ; 17), the breakpoints of which are in the PML gene on chromosome 15 and RARA gene on chromosome 17, is specifically found in acute... -
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