- Autosomal Dominant Polycystic Kidney Desease Coexisting with Renal Dysplasia. First Case Described and Followed Since Prenatal Period
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Truyols C
- KMID: 2435372
- Child Kidney Dis.
- 2018 Oct;22(2):64-66.
- doi: 10.3339/jkspn.2018.22.2.64
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced... -
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- Autosomal Dominant Polycystic Kidney Desease Coexisting with Renal Dysplasia. First Case Described and Followed Since Prenatal Period
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Truyols C
- KMID: 2435352
- Child Kidney Dis.
- 2018 Apr;22(1):28-30.
- doi: 10.3339/jkspn.2018.22.1.28
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced... -
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- Myeloid Sarcoma of Peritoneum in Acute Myeloid Leukemia Patient with Inversion of Chromosome 16
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Kim JY, Park BK, Bae SH, Ryoo HM, Sung WJ, Lee AJ
- KMID: 2268962
- Korean J Med.
- 2015 Nov;89(5):581-584.
- doi: 10.3904/kjm.2015.89.5.581
Myeloid sarcoma is an extramedullary myeloid neoplasm that usually involves the skin, soft tissues, and lymph nodes. Myeloid sarcoma is found in 2.5-9.1% of acute myeloid leukemia patients, usually those... -
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- Familial Mediterranean Fever With Complete Symptomatic Remission During Pregnancy
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Kim KT, Jang HJ, Lee JE, Kim MK, Yoo JJ, Lee GY, Kae SH, Lee J
- KMID: 2174490
- Intest Res.
- 2015 Jul;13(3):287-290.
- doi: 10.5217/ir.2015.13.3.287
Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized... -
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- A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
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Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW
- KMID: 1791956
- Ann Lab Med.
- 2014 Sep;34(5):390-394.
- doi: 10.3343/alm.2014.34.5.390
KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11... -
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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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- Incidence and Spectrum of Chromosomal Abnormalities associated with Spontaneous Abortions in Korea: 470 Products of Conception over a Period of 6 Years (2005-2010)
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Han SH, An JW, Yang YH, Kim YJ, Cho HI, Lee KR
- KMID: 1851090
- J Genet Med.
- 2011 Jun;8(1):44-52.
- doi: 10.5734/JGM.2011.8.1.44
PURPOSE: Cytogenetic analysis of spontaneous abortions (SABs) provides valuable information to establish the causes of fetal loss, information that is essential to provide accurate reproductive and genetic counseling couples. Such... -
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- A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea
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Lee DH, Kim JK, Oh SE, Noh JW, Lee YK
- KMID: 1779244
- J Korean Med Sci.
- 2010 Nov;25(11):1680-1682.
- doi: 10.3346/jkms.2010.25.11.1680
Familial Juvenile hyperuricemic nephropathy (FJHN, OMIM #162000) is a rare autosomal dominant disorder characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. In most but not... -
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- A Case of del(16)(q22) in a Patient with Acute Myeloid Leukemia with Complex Karyotype
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Kim M, Lee JW, Lee JK, Hong YJ, Hong SI, Kang HJ, Cho EH, Chang YH
- KMID: 1781636
- Korean J Lab Med.
- 2010 Aug;30(4):329-333.
- doi: 10.3343/kjlm.2010.30.4.329
Inversion of chromosome 16 [inv(16)(p13.1q22)] and t(16;16)(p13.1;q22) are associated with acute myelomonocytic leukemia (AMML) with eosinophilia and a favorable prognosis. On the other hand, patients with del(16)(q22) usually present with... -
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- Two Cases of Acute Myeloid Leukemia with t(16;21)(p11;q22) and TLS/FUS-ERG Fusion Transcripts
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Chang WR, Park IJ, Lee HW, Park JS, Kim HC, Kim HJ, Han JH, Cho SR
- KMID: 1077413
- Korean J Lab Med.
- 2009 Oct;29(5):390-395.
- doi: 10.3343/kjlm.2009.29.5.390
Many AML-associated chromosomal abnormalities, such as t(8;21), t(15;17), inv(16), t(9;11), t(9;22) and t(6;9) are well known. The chromosomal aberration of t(16;21)(p11;q22) in AML is rare and it is known to... -
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- Prenatally Diagnosed Uncommon Mosaic Autosomal Trisomy
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Lee BY, Park SY, Lee MH, Kim JW, Park JY, Choi EY, Lee YW, Oh AR, Lee SY, Kim MH, Ryu HM
- KMID: 2244898
- J Genet Med.
- 2009 Jun;6(1):95-99.
Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level... -
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- A Case of Chromosome 16 Disorder with Unilateral Multicystic Displastic Kidney
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Lim JE, Kim SY
- KMID: 1750725
- J Korean Soc Neonatol.
- 2007 Nov;14(2):243-246.
The survival rate of neonates with aberrations of chromosome 16 is very low because they are incompatable with life. We encountered a case of a chromosome 16 aberration in a... -
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- A Case of Therapy-related Acute Myeloid Leukemia associated with inv(16)
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Lee SY, Kim M, Lim J, Kim Y, Han K, Kim SY, Kim HJ, Park IY
- KMID: 1121654
- Korean J Lab Med.
- 2007 Feb;27(1):19-21.
- doi: 10.3343/kjlm.2007.27.1.19
The inv(16)(p13q22) is found in de novo AML and is closely associated with the FAB subtype M4eo. The inv(16) is rarely reported in therapy-related AML (t-AML) patients. Herein, we report... -
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- An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies
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Lee JY, Yu JE, Shin YH, Park MS, Hong J
- KMID: 2144543
- J Korean Soc Neonatol.
- 2005 Nov;12(2):212-216.
We present a case of de novo reciprocal unbalanced translocation of chromosome 16, [46, XX, 8p+, der(8)t(8;16)(p23;q13)enh(16)], associated with clinical features, including anal atresia, vertebral anomaly, urogenital anomaly, single umbilical... -
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- Identification of Tumor Suppressor Loci on the Short Arm of Chromosome 16 in Primary Small Cell Lung Cancers
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Kee HJ, Shin JH, Chang J, Chung KY, Shin DH, Kim YS, Chang YS, Kim SK, Kwak SM, Kim SK
- KMID: 2318455
- Tuberc Respir Dis.
- 2003 Dec;55(6):597-611.
BACKGROUND: Loss of the short arm of chromosome 16 is a frequent event in various cancers, which suggests the presence of tumor suppressor gene(s) there. To map precise tumor suppressor... -
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- A Case of de Novo Interstitial Deletion 16(Q13q22)
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Sohn WK, Yoon ES, Yoon J, Kim YK, Yoon KW, Woo YJ, Hyun WY, Jeon DJ
- KMID: 1613435
- Korean J Perinatol.
- 2002 Sep;13(3):304-308.
Deletion of the long arm of chromosome 16 is uncommon. The causes of deletion are two: one is unbalanced translocation and the other is de novo deletion. In our case,... -
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- Myelodysplastic syndrome that progressed to acute myelomonocytic leukemia with eosinophilia showing peculiar chromosomal abnormality: a case report
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Kim SH, Suh CW, Choi SJ, Kim JG, Lee JH, Kim SB, Kim SW, Lee KH, Lee JS, Kim WK, Kim SH, Seo EJ, Chi HS
- KMID: 1731321
- J Korean Med Sci.
- 1999 Aug;14(4):448-450.
- doi: 10.3346/jkms.1999.14.4.448
Myelodysplastic syndrome is a closely related group of acquired bone marrow disorders characterized by ineffective and dysplastic hematopoiesis. These clonal disorders frequently progress to acute leukemia. Acute myelomonocytic leukemia with... -
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- Chromosime Analysis from Chorionic Villi Samples in Recurrent Sponataneous Abortion
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Yoo TW, Hwang JH, Park MI, Chung SR, Hwang YY, Shim SH, Lee CG, Cho YH
- KMID: 2280481
- Korean J Perinatol.
- 1997 Dec;8(4):408-413.
Recurrent abortion has been defined as the occurrence of three or more clinically recognized pregnancy loss before 20 weeks and it occurs in 1% of women. The chromosomal abnormalities of... -
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- Surgical Experience of Intracranial Aneurysm in a Patient with Polycystic Kidney: Case Report
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Hur W, Park HS, Kim SY, Lee DY
- KMID: 1955073
- J Korean Neurosurg Soc.
- 1995 Dec;24(12):1594-1599.
Rupture of cerebral aneurysm is a significant cause of morbidity and mortality in patients with polycystic kidney. Although many authors have emphasized the relationship between these two diseases, the exact... -
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