- A Case of 21-Monosomy with Holoprosencephaly(Semilobar Type)
-
Lee SY, Cho SM
- KMID: 1606978
- J Korean Pediatr Soc.
- 2003 Aug;46(8):831-835.
Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome... -
- CITED
-
- Close
- SHARE
-
- Close
- Male Infertility with Reciprocal Translocation t(1;21)(q11;p13)
-
Han JY, Kim KH, Hwang TH, Moon SY, Kim JI, Shaffer LG
- KMID: 1560326
- Korean J Lab Med.
- 2002 Aug;22(4):286-288.
Reports of male infertility associated with autosomal translocations are rare. Cases involving translocations between chromosomes 1 and 21 are even rarer. We describe an azoospermic male with a reciprocal translocation... -
- CITED
-
- Close
- SHARE
-
- Close
- Neurobiology of Alzheimer's Disease
-
Chung YC, Seo SW, Lee SH
- KMID: 2142160
- J Korean Soc Biol Psychiatry.
- 2001 Jun;8(1):62-70.
Alzheimer's disease(AD) is associated with a characteristic neuropathology. The major hallmarks of AD are senile plaques(SPs) and neurofibrillary tangles(NFTs). beta-amyloid protein(Abeta) is derived from the proteolysis of amyloid precursor protein(APP)... -
- CITED
-
- Close
- SHARE
-
- Close
- Detection of Down Syndrome & Edward Syndrome in uncultured amniocytes using FISH ( Fluorescence In Situ Hybridization
-
Moon SY, Choi J, Hwang DY, Choi YM, Chang EJ, Cheong KS, Kim KC, Min EG, Lee JY
- KMID: 2026751
- Korean J Obstet Gynecol.
- 1998 Nov;41(11):2859-2863.
FISH is suggested as a possible method to detect the numerical and structural abnormalities of chromosomes in interphase nucleus. We performed this study to discuss the clinical usefulness of FISH... -
- CITED
-
- Close
- SHARE
-
- Close
- Near-tetraploidy Acute Myeloid Leukemia with RUNX1-RUNX1T1 Rearrangement Due to Cryptic t(8;21)
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- A Novel KIT INDEL Mutation in Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1
-
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. -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Acute Myeloid Leukemia with Masked t(8;21)
-
Kim H, Kim M, Lim J, Kim Y, Han K, Kim SY, Kim HJ
- KMID: 2238849
- Korean J Lab Med.
- 2006 Oct;26(5):338-342.
- doi: 10.3343/kjlm.2006.26.5.338
We report a case that revealed the characteristics of acute myeloblastic leukemia with maturation (AML-M2) on the morphology of the bone marrow biopsy and 45,X,-Y in conventional cytogenetic study, but... -
- CITED
-
- Close
- SHARE
-
- Close
- Molecular Neurobiology of Alzheimer's Disease
-
Kim YH, Rhee CG, Kim YK, Kim SS
- KMID: 2333738
- J Korean Geriatr Psychiatry.
- 1998 May;2(1):37-46.
Alzheimer's disease (AD), the most common dementia in the elderly, is associated with a characteristic neuropathology:extracellular neuritic plaques (NPs) and intraneuronal neurofibrillary tangles (NFTs). AD is diagnosed clinically on the... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Pentasomy 21 With Two Isochromosome 21s in Acute Megakaryoblastic Leukemia Associated With Down Syndrome
-
Park Y, Lim J, Ko YH, Kim J, Kwon GC, Koo SH
- KMID: 2363214
- Ann Lab Med.
- 2015 May;35(3):373-375.
- doi: 10.3343/alm.2015.35.3.373
No abstract available. -
- CITED
-
- Close
- SHARE
-
- Close
- Detection of RUNX1-MECOM Fusion Gene and t(3;21) in a Very Elderly Patient Having Acute Myeloid Leukemia with Myelodysplasia-Related Changes
-
Yang JJ, Cho SY, Suh JT, Lee HJ, Lee WI, Yoon HJ, Baek SK, Park TS
- KMID: 1387352
- Ann Lab Med.
- 2012 Sep;32(5):362-365.
- doi: 10.3343/alm.2012.32.5.362
An 87-yr-old woman was diagnosed with AML with myelodysplasia-related changes (AML-MRC). The initial complete blood count showed Hb level of 5.9 g/dL, platelet counts of 27x10(9)/L, and white blood cell... -
- CITED
-
- Close
- SHARE
-
- Close
- Prognostic Effect of cytoplasmic CD79a Expression in Acute Myeloid Leukemia with t(8;21)
-
Chung HJ, Chi HS, Cho YU, Lee EH, Jang S, Park CJ, Seo EJ
- KMID: 1781541
- Korean J Lab Med.
- 2007 Dec;27(6):388-393.
- doi: 10.3343/kjlm.2007.27.6.388
BACKGROUND: Although cytoplasmic CD79a (cytCD79a) is a highly lineage-specific marker of B lymphoid cells and plays an important role in the diagnosis of acute leukemia, its clinical significance is... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Partial Trisomy 9pter --> q13 due to Paternal Balanced Translocation t (9;21) (q13;q21)
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review
-
Ryu SW, Lee G, Baik CS, Shim SH, Kim JT, Lee JS, Lee KA
- KMID: 1096808
- Korean J Lab Med.
- 2010 Apr;30(2):195-200.
- doi: 10.3343/kjlm.2010.30.2.195
We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features... -
- CITED
-
- Close
- SHARE
-
- Close
- AML1/ETO Fusion Gene Expression and Clinical Characteristics of Adult Acute Myelogenous Leukemia
-
Lee SB, Kim YI, Yoon HJ, Kim SY, Cho KS
- KMID: 1849136
- Korean J Hematol.
- 1998 Oct;33(3):311-321.
BACKGROUND: The (8;21) translocation is one of the most frequent karyotypic abnormalities detected in acute myelogenous leukemia (AML). Up to 92% of cases with this translocation are classified as FAB... -
- CITED
-
- Close
- SHARE
-
- Close
- Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents
-
Cho YG, Park TW, Lee CS, Choi SI
- KMID: 1734056
- Yonsei Med J.
- 2005 Apr;46(2):284-288.
- doi: 10.3349/ymj.2005.46.2.284
We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r (21) /i (21p13) mosaicism and rob (14; 21) ]. Molecular studies using... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Transient Myeloproliferative Disorder Associated with Clonal Trisomy 21 in a Chromosomally Normal Newborn
-
Park J, Hong YR, Kong SG
- KMID: 2435414
- Clin Pediatr Hematol Oncol.
- 2018 Oct;25(2):191-196.
- doi: 10.15264/cpho.2018.25.2.191
Transient myeloproliferative disorder (TMD) is similar to congenital leukemia, with leukocytosis, increased peripheral blast cells, and hepatomegaly in the neonatal period. Although TMD occurs only in patients with Down syndrome... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Systemic Mastocytosis Associated with Acute Myeloid Leukemia Terminating as Aleukemic Mast Cell Leukemia after Allogeneic Hematopoietic Stem Cell Transplantation
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Masked t(8;21) in Acute Myeloid Leukemia with Cytogenetic Abnormality of 45,X,-Y,t(8;17)(q22;p13)
-
Shim H, Lee YJ
- KMID: 2312185
- Lab Med Online.
- 2011 Jul;1(3):168-171.
The t(8;21)(q22;q22) is one of the most frequent structural chromosomal anomaly found in AML, occurring in about 5% of all AML and in 10% of AML with maturation (M2). And... -
- CITED
-
- Close
- SHARE
-
- Close
- Rapid Prenatal Diagnosis of Trisomy 21 by Real-Time Quantitative Polymerase Chain Reaction
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
- Cytogenetic Analysis of Amniotic Fluid, CVS, and Abortus in a University Hospital for Ten Years
-
Choi SH, Ahn JY, Kim KH, Yang HR, Lee YH, Yoo MS, Suh HI, Park PW, Seo YH
- KMID: 1466833
- J Lab Med Qual Assur.
- 2009 Dec;31(2):293-299.
BACKGROUND: This study was conducted to analyze, compare, and assess the indications, incidences, and types of chromosomal abnormalities in the amniotic fluid, chorionic villus sampling (CVS), and abortus and to... -
- CITED
-
- Close
- SHARE
-
- Close
