- A Case of Ring Chromosome 14 Syndrome Presenting with Intractable Epilepsy
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Kim MJ, Yu HJ, Lee J, Lee M
- KMID: 2008771
- J Korean Epilepsy Soc.
- 2012 Jun;16(1):33-36.
Ring chromosome 14 syndrome is a rare cytogenetic disorder characterized by typical facial appearance, developmental delay, and intractable epilepsy. There have been about 50 reported cases in the world and... -
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- A case of D13 ring chromosome syndrome
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Park SL, Im HJ, Shin JH, Lee H, Lyu MS, Paik YK
- KMID: 1691299
- J Korean Pediatr Soc.
- 1992 May;35(5):713-717.
No abstract available. -
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- Analysis of Chromosomal Aberration Induced by Low Dose of Radiation
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Yi CJ, Ha SW
- KMID: 2097431
- J Korean Soc Ther Radiol.
- 1993 Dec;11(2):233-240.
Chromosomal aberration analysis, as a basis for biological radiation dosimetry, was performed for radiation dose ranges below 150 cGy. The yield, ratio of lymphocytes with dicentric and/or ring chromosomes, was... -
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- A Case of Multiple Congenital Abnormalities Associated with Ring Chromosome 13
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Lee YH, Choi DW, Coe CJ, Kim KY
- KMID: 1682576
- J Korean Pediatr Soc.
- 1988 Apr;31(4):506-510.
No abstract available. -
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- Ring Chromosome 5 in Acute Myeloid Leukemia Defined by Whole-genome Single Nucleotide Polymorphism Array
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Huh J, Mun YC, Chung WS, Seong CM
- KMID: 1380093
- Ann Lab Med.
- 2012 Jul;32(4):307-311.
- doi: 10.3343/alm.2012.32.4.307
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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- A Case of 13 Ring Chromosome Syndrome
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Park CJ, Lim BI, Cho HJ, Song KY, Kim KW
- KMID: 2177141
- J Korean Child Neurol Soc.
- 1998 May;5(2):383-387.
We have experienced a case of 13 ring chromosome in a 40-month-old girl who demonstrated psychomotor retardation with delayed speech, growth retardation, hearing loss(left), microcephaly, trigonocephaly with flat occiput, hypertelorism,... -
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- Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay
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Park YM, Nho HN, Kim SZ, Ahn YM
- KMID: 2280164
- Korean J Pediatr.
- 2008 Apr;51(4):426-430.
- doi: 10.3345/kjp.2008.51.4.426
We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development... -
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- A Case of 18 Ring Chromosome
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Bin JH, Song MY, Lee IG, Lee WB, Lee BC
- KMID: 1606282
- J Korean Pediatr Soc.
- 2001 Jun;44(6):683-686.
A ring 18 chromosome(18r) karyotype is a rare disorder characterized by short stature, obesity, microcephaly, mental retardation, micropenis, cryptorchidism, hypertelorism, epicanthal folds, micrognathia, and small hands with short tapering fingers.... -
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- Mosaic Ring Chromosome 6 in an Infant with Significant Patent Ductus Arteriosus and Multiple Congenital Anomalies
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Lee SJ, Han DK, Cho HJ, Cho YK, Ma JS
- KMID: 1714209
- J Korean Med Sci.
- 2012 Aug;27(8):948-952.
- doi: 10.3346/jkms.2012.27.8.948
The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes.... -
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- Hemihypertrophy with hypomelanosis of Ito: A new syndrome combination
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Goswami HK
- KMID: 1538076
- J Genet Med.
- 1998 Mar;2(1):1-6.
A female hemihypertrophy patient with hypomelanosis of Ito is presented as a rare case combining classical features of both the syndrome. Chromosomal profile has been based on longitudinal study of... -
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- A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy
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Jung YK, Lee GH
- KMID: 2279613
- Korean J Pediatr.
- 2005 Jan;48(1):108-111.
Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of... -
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- A case of mosaic ring chromosome 13 syndrome
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Kim SY, Oh SM, Kim MJ, Song ES, Kim YO, Choi YY, Woo YJ, Hwang TJ
- KMID: 2281682
- Korean J Pediatr.
- 2009 Feb;52(2):242-246.
- doi: 10.3345/kjp.2009.52.2.242
The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases... -
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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 Ring Chromosome 21 with Multiple Congenital Anomalies
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Lee JH, Seo EJ
- KMID: 2104625
- J Korean Pediatr Soc.
- 2003 Mar;46(3):291-294.
Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome... -
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- A Case of Ring Chromosome 13 Syndrome with Jejunal Atresia and Hearing Loss
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Lee JH, Lee JH, Chun CS
- KMID: 2188590
- J Korean Soc Neonatol.
- 2006 May;13(1):149-153.
A ring chromosome 13 was found in newborn female with multiple congenital anomalies suggestive of 13q-syndrome. She presented with intrauterine growth retardation, agenesis of thumbs, craniofacial anomalies, congenital heart diseases,... -
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- Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22
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Cho EH, Park JB, Kim JK
- KMID: 2284109
- Korean J Pediatr.
- 2014 Jul;57(7):333-336.
- doi: 10.3345/kjp.2014.57.7.333
Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to... -
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- The Frequency of Chromosomal Aberrations of Peripheral Lymphocytes according to Radiation Dose and Dose Rate
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Jeong TS, Baek HM, Shin BC, Moon CW, Kim MH, Lee YH, Yum HY
- KMID: 2198703
- J Korean Soc Ther Radiol Oncol.
- 2000 Jun;18(2):138-149.
PURPOSE: It was studied that the relationship between radiation dose, dose rate and the frequency of chromosomal aberrations in peripheral lymphocytes. METHODS AND MATERIALS: Peripheral lymphocytes were irradiated in vitro... -
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- A Comparison Study of Metaphase Analysis of Chromosomal Aberration and Flow Cytometric Assessment of Radiation- induced Apoptosis in Human Peripheral Lymphocytes
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Bom HS, Lee SY, Lee SK, Min JJ, Jeong HJ, Song HC, Kim JY, Shin JH, Suh SP, Rhang DW
- KMID: 1556307
- Korean J Nucl Med.
- 1999 Feb;33(1):94-99.
PURPOSE: Radiation-induced chromosomal damage and apoptosis were compared in human lymphocytes. MATERIALS AND METHODS: Peripheral lymphocytes from 10 normal volunteers (6 males, 4 females, age range 23~41 years) were irradiated... -
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- A case of de novo ring (13) chromosome with deletion 13q32.2-->qter
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Hwang SJ, Lee JH, Park IY, Moon HB, Oh JH, Lee GS, Yi CS, Shin JC, Kim SP
- KMID: 2262639
- Korean J Obstet Gynecol.
- 2002 Feb;45(2):323-326.
We report a case of ring chromosome 13 with a distal deletion of 13q32.2-->qter observed in a fetus who was referred to our institution at term due to severe growth... -
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- An Effect of benzene on Chromosomes in Bone Marrow Cells of Rats
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Kim KH, Oh SH, Shin TS
- KMID: 2461299
- J Korean Orthop Assoc.
- 1976 Sep;11(3):499-511.
- doi: 10.4055/jkoa.1976.11.3.499
The toxic action of benzene on erythropoiesis and myelopciesis, has been recognized since the early years of the present century. With the advance in high civilization and modern covenience, benzene... -
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