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Sole Trisomy 22 Not Associated with inv(16) in Myelodysplastic Syndrome

Hahm C, Hwang Y, Mun YC, Seong CM, Chung WS, Huh J

Trisomy 22 is closely associated with inv(16) or t(16;16) and could be a marker of cryptic rearrangement of CBFB/MYH11 in acute myeloid leukemia (AML). Trisomy 22 not associated with CBFB/MYH11...
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Identification of marker chromosomes by reverse painting fluorescence in situ hybridization and comparative genomic hybridization

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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Computational Analysis of Neighboring Genes on Arabidopsis thaliana Chromosomes 4 and 5: Their Genomic Association as Functional Subunits

Goh SH, Kim TH, Kim JH, Nam DG, Choi D, Hur CG

  • KMID: 1973994
  • Genomics Inform.
  • 2003 Sep;1(1):40-49.
The genes related to specific events or pathways in bacteria are frequently localized proximate to the genome of their neighbors, as with the structures known as operon, but eukaryotic genes...
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Four Cases of Hematologic Malignancy Following Radioactive Iodine Therapy for Thyroid Cancer

Im M, Lee JK, Hong YJ, Hong SI, Kang HJ, Na II, Ryoo BY, Cheon GJ, Lee HN, Chang YH

Ionizing radiation including I131 might produce chromosomal translocation, causing hematologic malignancy. The incidence of leukemia following radioactive iodine treatment for thyroid cancer has been reported to be approximately 0.1 to...
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A Novel Translocation t(1;5)(p32;q31) that Was Not Associated with the TAL1 Rearrangement in a Case of T Lymphoblastic Leukemia/Lymphoma

Cho HS, Kim MK, Bae YK

Chromosome 1 band p32 (1p32) aberrations are common in T lymphoblastic leukemia/lymphoma (T-ALL/LBL). Two types of 1p32 aberrations include translocations with different partners and submicroscopic interstitial deletion. Both aberrations are...
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Microcystic Meningiomas: Its Immunohistochemical and Genetic Aspect

Koo SK, Han JY, Kim SJ, Kim KU

  • KMID: 2067218
  • J Korean Neurosurg Soc.
  • 2006 Feb;39(2):136-140.
The authors report three microcystic meningiomas with its characteristic immunohistochemical findings and chromosomal pattern. Three patients with surgically treated microcystic meningioma were studied for its radiological, histopathological findings, and chromosomal...
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High Frequency of Genetic Alterations in Non-small Cell Lung Cancer Detected by Multi-target Fluorescence In Situ Hybridization

Kang JU, Koo SH, Kwon KC, Park JW, Shin SY, Kim JM, Jung SS

Detection of genetic alterations could provide a tool as an adjuvant for the diagnosis of non-small cell lung cancer (NSCLC) and to define patients at risk for early relapse. In...
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Ring Chromosome 5 in Acute Myeloid Leukemia Defined by Whole-genome Single Nucleotide Polymorphism Array

Huh J, Mun YC, Chung WS, Seong CM

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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Erythroleukemia Relapsing as Precursor B-cell Lymphoblastic Leukemia

Park BG, Park CJ, Jang S, Seo EJ, Chi HS, Lee JH

AML relapsing as ALL has rarely been reported. We describe the case of a 62-yr-old man who was diagnosed with erythroleukemia with a complex karyotype and achieved complete hematologic and...
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A De Novo Unbalanced Translocation t (5;7) (q33;p22) Carrying Partial Trisomy 5q and Partial Monosomy 7p

Han JY, Kim KH, Hwang KG, Shaffer LG

  • KMID: 2225886
  • Korean J Clin Pathol.
  • 1999 Jun;19(3):364-367.
Partial trisomy of the long arm of chromosome 5 distal to 5q33 is rare. Only 16 cases have so far been reported. We report on a three-year-old boy with microcephaly,...
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A Case of Myelodysplastic Syndrome in a Renal Transplant Recipient

Lee CW, Kang MS, Kim JK, Lee HA, Chu WS, Lee YK, Kim WB, Park MS, Hwang SD, Lee HB

  • KMID: 1968485
  • Korean J Nephrol.
  • 1999 Jan;18(1):204-209.
A 44-year-old man treated with azathioprine, cyclosporine and prednisolone for 7.5 years after allogeneic renal transplantation was admitted because of exertional dyspnea, fatigue and pancytopenia which were found 3 months...
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A Case of Combined Partial Monosomy 5p / Trisomy 13q Associated with Sonographic Abnormalities

Cho SJ, Jung SW, An WS, Kim KJ, Park MH, Hwang IT

  • KMID: 2269625
  • Korean J Obstet Gynecol.
  • 1999 May;42(5):1134-1137.
We report here a case of partial monosomy of the short arm of chromosome 5 combined with partial trisomy 13q due to reciprocal maternal translocation t[5;13]. The newborn demonstrated...
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Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3

Lee EJ, Kim KJ, Kim HN, Bok J, Jung SC, Kim EK, Lee JY, Kim HL

Granular corneal dystrophy, type II (CGD2; Avellino corneal dystrophy) is the most common corneal dystrophy among Koreans, but its pathophysiology is still poorly understood. Many reports showed that even though...
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An unusual combination of trisomy 21 and partial trisomy 5q

Kim CJ, Chi JG, Lee KH, Lee CK, Yoo MS, Paik YK

The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of...
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Cri-du-chat Syndrome with Dysphagia

Hong YC, Choi EJ, Ho YH, Lee OK, Kim YS

The cri-du-chat syndrome is a chromosomal disease caused by a deletion on the short arm of chromosome 5. Clinical features are characteristic facial features and high pitched cat like cry,...
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Isolation of polymorphic loci from the human genome using multi-locus probe pV47-2

Nam YS, Lee HR, Han GR, Hwang JJ

  • KMID: 1928224
  • Korean J Leg Med.
  • 1997 Oct;21(2):21-37.
Two polymorphic loci, so- called FS106 and FS185, have been isolated from the human genome, using a multilocus probe pV47-2, which is extensively used in Korea for forensic investigation such...
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Prenatal diagnosis of 5p deletion syndrome: A case series report

Han YJ, Kwak DW

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are...
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A Case of Cri du Chat Syndrome with Developmental Delay Misdiagnosed as Fetal Alcohol Syndrome

No SJ, Kim DO, Lee SM, Lee JS

  • KMID: 2043931
  • J Korean Child Neurol Soc.
  • 2012 Mar;20(1):23-27.
Cri du Chat syndrome (CdCS) is a chromosomal disease resulting from a deletion on the short arm of chromosome 5. Characteristic features include high pitched cat-like cry, distinguishing facial features,...
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Therapy-Related Myeloid Neoplasms in 39 Korean Patients: A Single Institution Experience

Huh HJ, Lee SH, Yoo KH, Sung KW, Koo HH, Kim K, Jang JH, Jung C, Kim SH, Kim HJ

BACKGROUND: Therapy-related myeloid neoplasms (t-MN) occur as late complications of cytotoxic therapy. This study reviewed clinical and cytogenetic characteristics of patients with t-MN at a single institution in Korea. METHODS: The...
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A Case of Pericentric Inversion of Chromosome 5(p15.1q11.2 )

Lee SJ, Jeong JH, Cho SM

  • KMID: 1967602
  • J Korean Pediatr Soc.
  • 2000 Oct;43(10):1404-1408.
Pericentric inversion of chromosome 5 is a rare chromosomal aberration, which has familial inheritance in a few cases. Many reports demonstrated that the phenotype is similar to the criduchat syndrome. There are...
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