- Computational Analysis of Neighboring Genes on Arabidopsis thaliana Chromosomes 4 and 5: Their Genomic Association as Functional Subunits
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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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- A Rare Case of Pediatric T Lymphoblastic Leukemia With t(11;17)(q23;q21) Involving Mixed-Lineage Leukemia Gene Rearrangement
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Kim H, Lee JK, Lee JA, Hong YJ, Hong SI, Jo HS, Chang YH
- KMID: 2373500
- Ann Lab Med.
- 2016 Jan;36(1):64-66.
- doi: 10.3343/alm.2016.36.1.64
No abstract available. -
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- Wolf-Hirschhorn (4p-) Syndrome Presenting with Status Epilepticus
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Jun JY, Yu HJ, Lim BC, Lee J, Chae JH, Lee M
- KMID: 1431581
- J Korean Epilepsy Soc.
- 2013 Jun;17(1):17-21.
Wolf-Hirschhorn syndrome is a well-recognized malformation syndrome with multiple congenital anomalies, resulting from partial deletion of the short arm of chromosome 4 (4p-). All affected individuals have intrauterine and postnatal... -
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- Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
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Kim YH, Kim HS, Ryoo NH, Ha JS
- KMID: 1781301
- Ann Lab Med.
- 2013 Jan;33(1):69-74.
- doi: 10.3343/alm.2013.33.1.69
We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from... -
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- Abnormalities in Chromosomes 1q and 13 Independently Correlate With Factors of Poor Prognosis in Multiple Myeloma
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Kim M, Ju YS, Lee EJ, Kang HJ, Kim HS, Cho HC, Kim HJ, Kim JA, Lee DS, Lee YK
- KMID: 2373596
- Ann Lab Med.
- 2016 Nov;36(6):573-582.
- doi: 10.3343/alm.2016.36.6.573
BACKGROUND: We comprehensively profiled cytogenetic abnormalities in multiple myeloma (MM) and analyzed the relationship between cytogenetic abnormalities of undetermined prognostic significance and established prognostic factors. METHODS: The karyotype of 333 newly... -
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- A Case of 4P+ Syndrome
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Yoon SJ, Hong SJ, Jo HG, Park DC
- KMID: 2335136
- J Korean Pediatr Soc.
- 1994 Sep;37(9):1325-1329.
We experinced a case of 4p+ syndrome in male infant. He had multiple anomalies such as flat occiput, hypertelorism, low set malformed ear, lower anterior hair line, depressed nose, broad... -
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- Duplication of intrachromosomal insertion segments 4q32-->q35 confirmed by comparative genomic hybridization and fluorescent in situ hybridization
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Kim JW, Park JY, Oh AR, Choi EY, Ryu HM, Kang IS, Koong MK, Park SY
- KMID: 1743682
- Clin Exp Reprod Med.
- 2011 Dec;38(4):238-241.
- doi: 10.5653/cerm.2011.38.4.238
A 35-year-old man with infertility was referred for chromosomal analysis. In routine cytogenetic analysis, the patient was seen to have additional material of unknown origin on the terminal region of... -
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- MYC Rearrangement Involving a Novel Non-immunoglobulin Chromosomal Locus in Precursor B-cell Acute Lymphoblastic Leukemia
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Seo JY, Lee SH, Kim HJ, Yoo KH, Koo HH, Cho YG, Choi SI, Kim SH
- KMID: 1380089
- Ann Lab Med.
- 2012 Jul;32(4):289-293.
- doi: 10.3343/alm.2012.32.4.289
MYC rearrangement, a characteristic cytogenetic abnormality of Burkitt lymphoma and several subsets of other mature B-cell neoplasms, typically involves an immunoglobulin gene partner. Herein, we describe a case of precursor... -
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- Prenatal diagnosis of 4p deletion syndrome: A case series report
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Kwak DW, Ahn HK
- KMID: 2386609
- J Genet Med.
- 2017 Jun;14(1):38-42.
- doi: 10.5734/JGM.2017.14.1.38
The 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, is a well-known genetic disorder caused by a partial deletion of the short arm of chromosome 4. The great variability in... -
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- A Case of 4q Deletion with Partial Agenesis of Corpus Callosum
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Kang MN, Lim IS, Kim BE, Chey MJ, Kim SW
- KMID: 2335589
- J Korean Pediatr Soc.
- 2002 Feb;45(2):273-277.
Syndrome of 4q deletion is characterized by an abnormal shape of the skull, craniofacial dysmorphism, cardiovascular malformations, genitourinary defects, limb and digital anomalies, and developmental delay. We experienced a case... -
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- Clinical and Molecular Delineation of a Novel De Novo 4q28.3-31.21 Interstitial Deletion in a Patient with Developmental Delay
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Rim JH, Kim SW, Han SH, Yoo J
- KMID: 2345909
- Yonsei Med J.
- 2015 Nov;56(6):1742-1744.
- doi: 10.3349/ymj.2015.56.6.1742
No abstract available. -
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- A Case of Mosaic Ring Chromosome 4 with Subtelomeric 4p Deletion
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Kim JH, Oh PS, Na HY, Kim SH, Cho HC
- KMID: 1781598
- Korean J Lab Med.
- 2009 Feb;29(1):77-81.
- doi: 10.3343/kjlm.2009.29.1.77
Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a... -
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- A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization (FISH)
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Dong ES, Kim MJ, Ahn YM, Koo MS, Yong HK, Lee A
- KMID: 2335485
- J Korean Pediatr Soc.
- 2000 Mar;43(3):438-443.
Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl... -
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- A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation
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Yoon SY, Hur JK, Jeong DC, Lee WB, Oh CK
- KMID: 2335427
- J Korean Pediatr Soc.
- 1999 Aug;42(8):1149-1153.
Wolf-Hirschhorn syndrome is caused by a partial loss of the distal short arm of chromosome 4. Characteristic clinical features are severe growth retardation, mental retardation, seizures, congenital cardiac defects, urogenital... -
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- A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
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Suh BS, Ko KH, Lee KH, Sung TJ
- KMID: 2130694
- Neonatal Med.
- 2015 Nov;22(4):233-237.
- doi: 10.5385/nm.2015.22.4.233
Wolf-Hirschhorn syndrome is a congenital disorder associated with partial deletion of the short arm of chromosome 4. The majority of patients showed characteristic facial anomalies - so called "Greek-Helmet" appearances... -
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- A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
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Noe EJ, Yoo HW, Kim KN, Lee SY
- KMID: 1455879
- Korean J Pediatr.
- 2010 Dec;53(12):1022-1025.
- doi: 10.3345/kjp.2010.53.12.1022
Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head... -
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- Jarcho-Levin syndrome: a report of an autopsy case with cytogenetic analysis
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Park Y, Gong G, Choe G, Yu E, Kim KS, Lee I
- KMID: 1422020
- J Korean Med Sci.
- 1993 Dec;8(6):471-475.
- doi: 10.3346/jkms.1993.8.6.471
Jarcho-Levin syndrome (JLS) is a condition manifested by malformations of vertebral bodes and related ribs. There are two major subtypes spondylocostal dysostosis and spondylothoracic dysostosis, with different survival rates, associated... -
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- Huntington's Disease Confirmed by Genetic and Pathological Study
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Lyoo CH, Lee MS, Kim YJ, Suk SH, Yang KH, Song KS
- KMID: 2342560
- J Korean Neurol Assoc.
- 1996 Sep;14(3):725-737.
Huntington's disease is an autosomal dominantly inherited neurodegenerative disease, which is characterized by choreic movement and progressive dementia. A definite diagnosis of Huntington's disease cannot be made by clinical informations... -
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- Dental Treatment of a Pediatric Patient with Wolff-Hirschorn Syndrome under General Anesthesia: A Case Report
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Shin SW, Kim JS, Kim SO
- KMID: 2345078
- J Korean Dent Soc Anesthesiol.
- 2011 Jun;11(1):51-54.
- doi: 10.17245/jkdsa.2011.11.1.51
Wolff-Hirschorn syndrome is a condition that is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. The major features of this... -
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- Identification of Tumor Suppressor Loci on the Long Arm of Chromosome 4 in Primary Small Cell Lung Cancers
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Cho ES, Chang J, Chung KY, Shin DH, Kim YS, Kim SK, Kim SK
- KMID: 1118962
- Yonsei Med J.
- 2002 Apr;43(2):145-151.
- doi: 10.3349/ymj.2002.43.2.145
Recent cytogenetic studies have indicated that loss of the long arm of chromosome 4 is a frequent event in small cell lung cancer (SCLC), which suggests the presence of tumor... -
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