• Title/Summary/Keyword: 핵형성

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A Case of Constitutional Trisomy 8 Mosaicism

  • Cho, Hee-Soon;Lee, Chae-Hoon;Kim, Kyoung-Dong;Lee, Eun-Sil
    • Journal of Yeungnam Medical Science
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    • v.22 no.2
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    • pp.241-246
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    • 2005
  • Constitutional trisomy 8 is a relatively rare aneuploidy; most identified cases are mosaic with a normal cell line. The phenotype is highly variable from apparently normal to severe disability. The proportion of abnormal cells is dramatically different between tissues and the severity of the phenotype is not directly related to the level of mosaicism. Therefore, it is very difficult to provide a definitive prognosis. We report here a case of constitutional trisomy 8 mosaicism with agenesis of the corpus callosum, congenital heart disease and micrognathia. The trisomy 8 cell line was not detected by prenatal cytogenetic study. This is the fourth reported case of constitutional trisomy 8 mosaicism in Korea.

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Systematic Study on the fishes of the Family Cobitidae (Pisces, Cypriniformes) 4. The Analyses of Karyotype and Mitochondrial DNA between the Two Species of the genus Misgurnus from Korea (기름종개과(Family Cobitidae) 어류의 계통분류에 관한 연구. 4 미꾸리속 어류 2종의 핵형 및 mtDNA 분석)

  • 이혜영;양서영
    • The Korean Journal of Zoology
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    • v.37 no.3
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    • pp.439-451
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    • 1994
  • 미꾸리속 어류 2종의 유전적 차이를 알아보기 위하여 염색체 분석과 미토콘드리아 DNA(mtDNA) 분석을 실시하였다. 일반염색에 의한 핵형 분석 결과 미꾸리(2N=50)와 미꾸라지(2N=48)는 염색체수에 차이가 있었으며. N-banding 분석 결과 두 종간에는 인형성 부위의 위치와 크기에 차이가 있었다. C-handing 겪과 미꾸라지는 1번 염색체쌍 동원 체부위에 넓게 C-band플 갖고 있었다. 미꾸리속 어류 2종의 mtONA를 7개의 6-base cutting 제한효소로 처리하여 절편 양상을 비교. 분석한 결과 2종 공히 mtDNA의 genome 크기는 약 16.OKb였으며 fragment homology(F)에서 미꾸리의 종내 집단간의 F값은 0.674. 미꾸라지는 0.862로 유사하게 나타났으나, 종간 F값은 0.207(0.074-0.417)로 낮았다 염기치환율은 미꾸리가 p=0.021, 미꾸라지는 p=0.002로 미꾸라지가 미꾸리에 비해 매우 낮은 염기치환율을 보였고. 종간 평균 염기치환율은 p=0.104로 차이 를 나타냈다. MtDNA 분석과 핵형 분석 결과 미꾸라지는 Robertsonlan translocation의 결과 미꾸리로 부터 분화된 것으로 추정 되었다.

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In situ Epitaxial Growth of the $TiSi_2$ on si(111)-7$\times$7 Substrate by Codeposition (동시증착에 의한 Si(111)-7$\times$7 기판 위에 $TiSi_2$ 에피택셜 성장)

  • 최치규;류재연;오상식;염병렬;박형호;조경익;이정용;김건호
    • Journal of the Korean Vacuum Society
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    • v.3 no.4
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    • pp.405-413
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    • 1994
  • 초고진공에서 기판 Si(111)-7$\times$7 위에 Ti:Si 또는 1:2의 조성비로 Ti와 Si을 동시증착한 후 in situ 열처리하여 TiSi2 박막을 에피택셜 성장시켰다 XRD와 XPS 분석결과 동시증착된 혼합 층에서 C49-TiSi2 박막의 성장은 핵형성에 의함을 확인하였으며 양질의 C49-TiSi2 박막은 Ti를 증착한후 Ti와 Si를 동시 증착한 (Ti+2Si)/(Ti)/Si(111)-7$\times$7구조의 시료를 초고진공에서 50$0^{\circ}C$에서 열처리하여 얻을수 있었다. 형성된 C49-TiSi2/Si(111)의 계면은 깨끗하였고 HRTEM 분석 결과 C49-TiSi2\ulcornerSi(111)의 계면은 약 10。 의 편의를 가지면서 TiSi2[211]∥Si[110] TiSi2(031)/Si(111) 의 정합성을 가졌으며 시료의 전 영 역에 에피택셜 성장되었다.

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Fabrication of porous glass ceramics in Li$_2$O-TiO$_2$-P$_2$O$_{5}$ system (R$_2$O-TiO$_2$-P$_2$O$_{5}$계 다공질 글라스 세라믹스의 제조)

  • 권면주;윤영진;강원호
    • Proceedings of the KAIS Fall Conference
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    • 2000.10a
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    • pp.173-177
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    • 2000
  • 인산염계 5Li₂O, 36CaO, 20TiO₂, 27P₂O/sub 5/의 조성을 선정하여 10K/min 승온속도로 1300℃에서 2시간동안 유지시켜 모유리를 제조하였고, 최적의 핵형성을 위해 610℃에서 20시간, 최고 결정성장을 위해 840℃에서 20시간 동안 열처리함으로써 LiTi₂(PO₄)₃상과 β-Ca₃(PO₄)₂결정상이 존재하는 Glass Ceramics를 제조하였고, 이를 1N-HCI용액에서 3일간 담지하여 β-Ca₃(PO₄)₂결정상을 용출시켜 LiTi₂(PO₄)₃상만이 존재하는 다공성 Glass Ceramics를 제조하였다.

A Cytogenetic Study in Patients with Sex Chromosome Abnormalities (성염색체이상증후군의 핵형 분석)

  • Seo, Hyun Ji;Lee, Ji Hye;Lee, Heung Kyo;Jung, Seung Hee;Lee, Kun Soo
    • Clinical and Experimental Pediatrics
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    • v.48 no.12
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    • pp.1317-1323
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    • 2005
  • Purpose : This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. Methods : Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001. Results : The relative frequencies of different sex chromosome abnormalities were Klinefelter(52 percent), Turner(42 percent), XXX syndrome(3 percent) and mixed gonadal dysgenesis(3 percent). The populations of different karyotypes in Klinefelter syndrome were 47,XXY(97 percent) and 46,XY/47,XYY(3 percent). The populations of different karyotypes in Turner syndrome were 45,X(67 percent,), mosaicism(23 percent), and structural aberrations(10 percent). The populations of different karyotypes in XXX syndrome were 47,XXX(67 percent,) and 46,XX/47,XXX(33 percent). All mixed gonadal dysgenesis were 45,X/46,XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations. Conclusion : Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.

A systematic study of Abeliophyllum distichum (Oleaceae) based on cytological characters (세포학적 형질에 기초한 미선나무의 계통분류학적 연구)

  • Tae, Kyoung-Hwan;Tho, Jae-Hwa;Kim, Joo-Hwan
    • Korean Journal of Plant Taxonomy
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    • v.35 no.2
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    • pp.143-151
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    • 2005
  • Cytological characteristics of Abeliophyllum distichum (Oleaceae), endemic to Korea, was examined. Somatic chromosome numbers was 2n = 28 which corresponds to diploid based on x=14. Chromosome length was varied continuously from $1.00{\mu}m$ to $2.03{\mu}m$. Karyotype of Abeliophyllum distichum was investigated in this study for the first time. The cytological characteristics including basic chromosome number, continuous variation of chromosome length, diploid and karyotype were similar to those of the genus Forsythia, which indicated the close relationship between Abeliophyllum and Forsythia, and consequently the two genera seemed to be included to same tribe.

Unbalanced translocation der(8)t(8:13)(p23.3;q32.1)dn identified by array CGH and subtelomeric FISH in a patient with mental retardation (선천성 정신지체가 있는 der(8)t(8;13)(p23.3;q32.1) 핵형의 성인여성)

  • Lee, Soo-Min;Lee, Dong-Suk;Jeong, Hyun-Ah;Kim, Ki-Chul;Hwang, Do-Yeong
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.65-68
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    • 2008
  • Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year-old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.

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Bubble Formation in Liquid Helium under Negative Pressure by Quantum Tunneling near Absolute Zero Temperature (절대 0도 부근에서 양자터널링에 의한 헬리움(He)액체의 부압하에서의 기포형성)

  • Kwak, H.;Jung, J.;Hong, J.
    • Proceedings of the KSME Conference
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    • 2001.06d
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    • pp.354-359
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    • 2001
  • As the temperature of liquid under negative pressure approaches the absolute zero, the nucleation process due to thermal fluctuations hardly occurs. Instead of this mechanism, quantum fluctuations may lead the formation of nucleus for new phase in metastable state. In this study, the thermal as well as quantum nucleation bubble in liquid helium under negative pressure was investigated theoretically. The energy barrier against nucleation was estimated by molecular interaction due to the Londom dispersion force. It is shown that the phase transition from liquid to vapor in is possible due to the quantum tunneling below 0.2 K for Helium-4 and 0.1 K for Helium-3, at negative pressures close to the ideal tensile strength at which every liquid molecules become bubbles simultaneously.

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Combustion and Microexplosion of AI/Liquid Fuel Slurry Droplets(II)-Theoretical Study- (Al/액체연료 슬러리 액적의 연소와 미세폭발 (II)-이론적 연구-)

  • Jo, Ju-Hyeong;Byeon, Do-Yeong;An, Guk-Yeong;Baek, Seung-Uk
    • Transactions of the Korean Society of Mechanical Engineers B
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    • v.22 no.6
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    • pp.813-822
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    • 1998
  • The microexplosion of a slurry droplet was considered to be caused by the shell formation and the following pressure build-up in the shell which would be promoted by the suppression of evaporation, subsequent superheating and heterogeneous nucleation of liquid carrier. To closely investigate the pressure build-up and the heterogeneous nucleation, a numerical model was introduced by considering the internal temperature distributions with the shell formation, suppression of evaporation and pressure build-up inside. The microexplosion time was estimated by postulating the limit of superheat for heterogeneous nucleation. The simulation yielded a reasonably good agreement with experimental results for Al/n-heptane slurry droplets under various solid loadings.