- Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]
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Gang MH, Lee YW, Lim HH, Chang MY
- KMID: 2468549
- Perinatology.
- 2019 Dec;30(4):254-259.
- doi: 10.14734/PN.2019.30.4.254
Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome... -
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- Single Nucleotide Polymorphisms Associated with Alcohol-Induced Flushing Syndrome in Korean Population
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Lee JH, Seo HJ, Cho S, Kim MY, Lee SD
- KMID: 2448942
- Korean J Leg Med.
- 2019 May;43(2):71-80.
- doi: 10.7580/kjlm.2019.43.2.71
Alcohol-induced flushing syndrome is one of the alcohol hypersensitivity reactions commonly found among Asian population. This study was designed to find markers that can predict this particular propensity among Korean... -
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- A Case of Chronic Myeloid Leukemia With Rare Variant ETV6/ABL1 Rearrangement
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Choi SI, Jang MA, Jeong WJ, Jeon BR, Lee YW, Shin HB, Hong DS, Lee YK
- KMID: 2373620
- Ann Lab Med.
- 2017 Jan;37(1):77-80.
- doi: 10.3343/alm.2017.37.1.77
No abstract available. -
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- Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome
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Lee MN, Lee J, Yu HJ, Lee J, Kim SH
- KMID: 2373617
- Ann Lab Med.
- 2017 Jan;37(1):66-70.
- doi: 10.3343/alm.2017.37.1.66
Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having... -
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- t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
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Kim J, Kim HS, Shin S, Lee ST, Choi JR
- KMID: 2373567
- Ann Lab Med.
- 2016 Jul;36(4):396-398.
- doi: 10.3343/alm.2016.36.4.396
No abstract available. -
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- Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Resource (KARE) Cohorts
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Shim U, Kim HN, Sung YA, Kim HL
- KMID: 2391496
- Genomics Inform.
- 2014 Dec;12(4):195-202.
- doi: 10.5808/GI.2014.12.4.195
Metabolic syndrome (MetS) is a complex disorder related to insulin resistance, obesity, and inflammation. Genetic and environmental factors also contribute to the development of MetS, and through genome-wide association studies... -
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- A Cryptic ETV6/ABL1 Rearrangement Represents a Unique Fluorescence In Situ Hybridization Signal Pattern in a Patient with B Acute Lymphoblastic Leukemia
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Song JS, Shin SY, Lee ST, Kim HJ, Kim SH
- KMID: 2129576
- Ann Lab Med.
- 2014 Nov;34(6):475-477.
- doi: 10.3343/alm.2014.34.6.475
No abstract available. -
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- Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia
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Kang DH, Kim SH, Jun JW, Lee YW, Shin HB, Ahn JY, Hong DS, Lee YK, Jeon BR
- KMID: 1381689
- Ann Lab Med.
- 2012 May;32(3):220-224.
- doi: 10.3343/alm.2012.32.3.220
The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (T-acute lymphoblastic leukemia [T-ALL]) involve T-cell receptor (TCR) loci and a variety of partner genes, including HOX11, HOX11L2, MYC, and TAL1.... -
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- Development of Acute Megakaryoblastic Leukemia with Isochromosome (12p) after a Primary Mediastinal Germ Cell Tumor in Korea
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Yu N, Kim HR, Cha YJ, Park EK, Kim JW
- KMID: 1777851
- J Korean Med Sci.
- 2011 Aug;26(8):1099-1102.
- doi: 10.3346/jkms.2011.26.8.1099
The association of hematological malignancies with a mediastinal germ cell tumor (GCT) is very rare. We report one case of a young adult male with primary mediastinal GCT who subsequently... -
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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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- Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation
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Park IY, Shin JC, Kwon JY, Koo BK, Kim M, Lim J, Kim Y, Han K
- KMID: 1096932
- Korean J Lab Med.
- 2009 Aug;29(4):366-370.
- doi: 10.3343/kjlm.2009.29.4.366
Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic... -
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- Interaction between Smoking and the STAB2 Gene in the Severity of Rheumatoid Arthritis
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Min JY, Min KB, Sung J, Cho SI
- KMID: 2166437
- Genomics Inform.
- 2009 Mar;7(1):20-25.
Rheumatoid arthritis (RA) is a chronic autoimmune disorder that is characterized by inflammation of the synovial tissue and deterioration of the joint and bone. A recent study reported a potential... -
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- Familial Noonan Syndrome Confirmed by PTPN11 Gene Test
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Kim YS, Lee ST, Ki CS, Park MJ
- KMID: 2321966
- J Korean Soc Pediatr Endocrinol.
- 2008 Jun;13(1):117-121.
Noonan syndrome is characterized by short stature, mental retardation, typical facial morphology, webbed neck and congenital heart disease. Noonan syndrome can be inherited in an autosomal dominant manner but all... -
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- A Case of Addition of Chromosome 12 associated with Multiple Anomaly and Developmental Impairment
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Chang YY, Jeong JE, Shin JY, Park HJ, Lee KH, Choi EJ, Kim JK, Chung HL, Seo ES, Kim WT
- KMID: 2099131
- J Korean Soc Neonatol.
- 2008 May;15(1):89-93.
Duplication of chromosome 12p has been rarely reported and are thought to be associated with congenital malformations and impaired development. We report a baby boy born with multiple dysmorphic features... -
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- A Case of Tetrasomy 12p Diagnosed Prenatally
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Lee KS, Lee SY, Park HJ, An HS, Park SJ, Han JY
- KMID: 2272353
- Korean J Obstet Gynecol.
- 2004 May;47(5):1001-1005.
Tetrasomy for the short arm of chromosome 12 (Pallister-Killian syndrome) is an uncommon mosaic aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormalities or following... -
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- Rapid Prenatal Diagnosis of Trisomy 21 by Real-Time Quantitative Polymerase Chain Reaction
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Yang YH, Baik JH, Nam MS, Yang ES, Kil MW, Shin JS, Jung YW, Jang SY
- KMID: 1925288
- Korean J Obstet Gynecol.
- 2003 Dec;46(12):2386-2391.
OBJECTIVE: Trisomy 21 (Down syndrome) is the most common chromosomal anomaly which occurs 1 out of 700-1000 birth. Current techniques such as amniocentesis, chorionic villi sampling (CVS), require lengthy laboratory... -
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- A Case of Paracentric Inversion of Chromosome 12(q13q22)
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Kim SY, Lee CA, Han MY, Kim SJ, Lee KH, Chae KY
- KMID: 2007352
- J Korean Child Neurol Soc.
- 2002 May;10(1):131-136.
Paracentric inversion of chromosome 12 is a rare chromosomal aberration, which has familial inheritance in a few cases. We encountered a 2-year-old girl who presented developmental delay, failure to thrive,... -
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- A Case of Dentatorubropallidoluysian Atrophy with Progressive Myoclonus Epilepsy
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Joung JH, Bae SJ, Jeong DS, Bae WK, Ahn MY, Park HK
- KMID: 2186036
- J Korean Neurol Assoc.
- 2001 Mar;19(2):173-175.
The dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disorder with expansion of an unstable CAG trinucleotide repeat in a gene on chromosome 12 and a rare cause of progressive myoclonus epilepsy... -
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- Dentatorubro-pallidoluysian Atrophy: The Clinical and Molecular Genetic Study of Three Korean Families
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Bae YH, Im JH, Lee SA, Park SS, Lee MC
- KMID: 2342835
- J Korean Neurol Assoc.
- 2000 Jul;18(4):465-468.
Dentatorubro-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder with various clinical phenotypes and has a cytosine-adenine-guanine (CAG) trinucleotide repeat in a gene on chromosome 12. It has been known that... -
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