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Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

  • Lee, Jin Hwan;Kim, Hyo Jeong;Yoon, Jung Min;Cheon, Eun Jung;Lim, Jae Woo;Ko, Kyong Og;Lee, Gyung Min
    • Clinical and Experimental Pediatrics
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    • v.59 no.sup1
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    • pp.19-24
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    • 2016
  • Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.

Test Standard for Reliability of Automotive Semiconductors: AEC-Q100 (자동차 반도체의 신뢰성 테스트 표준: AEC-Q100)

  • Lee, Seongsoo
    • Journal of IKEEE
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    • v.25 no.3
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    • pp.578-583
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    • 2021
  • This paper describes acceleration tests for reliability of semiconductors. It also describes AEC-Q100, international test standard for reliability of automotive semiconductors. Semiconductors can be used for dozens of years. So acceleration tests are essential to test potential problems over whole period of product where test time is minimized by applying intensive stresses. AEC-Q100 is a typical acceleration test in automotive semiconductors, and it is designed to find various failures in semiconductors and to analyze their causes of occurance. So it finds many problems in design and fabrication as well as it predicts lifetime and reliability of semiconductors. AEC-Q100 consists of 7 test groups such as accelerated environmental stress tests, accelerated lifetime simulation tests, package assembly integrity tests, die fabrication reliability tests, electrical verification tests, defect screening tests, and cavity package integrity tests. It has 4 grades from grade 0 to grade 3 based on operational temperature. AEC-Q101, Q102, Q103, Q104, and Q200 are applied to discrete semiconductors, optoelectronic semiconductors, sensors, multichip modules, and passive components, respectively.

A Quantitative Analysis of I/Q Regeneration and I/Q Mismatch in Multi-Port Junction-based Direct Receivers (다중 접합 기반 수신기의 I/Q 재생성과 I/Q 부정합의 정량적 분석)

  • Park, Hyung Chul
    • Journal of the Institute of Electronics and Information Engineers
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    • v.49 no.9
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    • pp.145-154
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    • 2012
  • This paper proves that multi-port junction-based direct receivers (MPDRs) can regenerate I- and Q-channel signals accurately by using conventional I/Q mismatch compensation. This proof enables MPDRs to be integrated into existing RFIC based systems without additional digital signal processing. This paper analyzes the relationship between accuracy of I/Q regeneration parameters and degree of I/Q mismatch, and shows that the estimation results and the simulation results are almost the same.

LABELLING OF SOME PLANAR GRAPHS WITH A CONDITION AT DISTANCE TWO

  • Zhang, Sumei;Ma, Qiaoling
    • Journal of applied mathematics & informatics
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    • v.24 no.1_2
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    • pp.421-426
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    • 2007
  • The problem of vertex labeling with a condition at distance two in a graph, is a variation of Hale's channel assignment problem, which was first explored by Griggs and Yeh. For positive integer $p{\geq}q$, the ${\lambda}_{p,q}$-number of graph G, denoted ${\lambda}(G;p,q)$, is the smallest span among all integer labellings of V(G) such that vertices at distance two receive labels which differ by at least q and adjacent vertices receive labels which differ by at least p. Van den Heuvel and McGuinness have proved that ${\lambda}(G;p,q){\leq}(4q-2){\Delta}+10p+38q-24$ for any planar graph G with maximum degree ${\Delta}$. In this paper, we studied the upper bound of ${\lambda}_{p,q}$-number of some planar graphs. It is proved that ${\lambda}(G;p,q){\leq}(2q-1){\Delta}+2(2p-1)$ if G is an outerplanar graph and ${\lambda}(G;p,q){\leq}(2q-1){\Delta}+6p-4q-1$ if G is a Halin graph.

The Relationship between Anatomical Characteristics and Compression Strength Parallel to Grain in Major Species of Lepidobalanus (참나무 아속(亞屬) 주요 수종의 조직적 성질과 종압축강도와의 관계)

  • Oh, Seung-Won
    • Journal of the Korean Wood Science and Technology
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    • v.26 no.1
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    • pp.63-69
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    • 1998
  • This study was carried out to get some basic information on mechanical properties of Korea Lepidobalanus for rational utilization of wood. Five species of Quercus variabilis, Q. aliena, Q. serrata, Q. mongolica, Q. acutissima belong to Lepidobalanus were investigated in this research. Relationship of anatomical characteristics to compression strength parallel to grain was analyzed using stepwise regression technique. All possible combination of 21 independent variables were regressed on compression strength parallel to grain. The summarized results in this study were as follows: I. In the proportion of wood structural elements, the factors that had the greatest influence on compression strength parallel to grain appeared to be proportion of ray in earlywood in Q. variabilis and Q. acutissima, proportion of wood fiber in latewood in Q. aliena and Q. serrata and proportion of vessel in earlywood in Q. mongolica respectively. 2. In the size of wood element and its structure, the factors that had the greatest influence on compression strength parallel to grain were microfibril angle in Q. variabilis, Q. serrata and Q. mongolica and length of wood fiber in Q. aliena and Q. acutissima.

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Application of qDVC Method for Measuring Viable Cells in Lakes (호수 생태계에서 살아있는 세균을 측정하기 위한 qDVC 방법의 적용)

  • Kim, Mi-Ree;Seo, Eun-Young;Choi, Seung-Ik;Ahn, Tae-Seok
    • Korean Journal of Microbiology
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    • v.42 no.3
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    • pp.205-209
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    • 2006
  • For measuring the viable cells in lakes, quantitative direct viable count (qDVC) method is applied. In the qDVC process, the final concentration of glycine is fixed as 2%. For confirming the effectiveness of qDVC for enumerating the viable cells, the viable bacterial numbers were measured by plate count, CTC reduction method and qDVC method at 5 different lakes. Among these 3 methods, the bacterial numbers by qDVC is $2.4{\sim}6.0$ times higher than those by the other 2 methods. And by the qDVC method, the viable cells were easily discriminated from dead or dormant cells.

Analysis of QTLs Related to Resistance to Brown Planthopper in Rice (DH 집단을 이용한 벼멸구 저항성 연관 QTLs 분석)

  • Kim, Suk-Man;Qin, Yang;Sohn, Jae-Keun
    • Korean Journal of Breeding Science
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    • v.41 no.3
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    • pp.236-243
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    • 2009
  • This study was conducted to develop a japonica-type rice cultivar with brown planthopper (BPH) resistance using DNA markers. A doubled haploid (DH) population consisting of 120 pure-lines was established by anther culture of $F_1$ hybrids between 'Samgang', a Tongil type BPH resistance cultivar, and 'Nagdong', a japonica cultivar. To determine the map position of genes responsible for BPH resistance in rice, a genetic map was constructed based on 120 DH lines. A total of 162 molecular markers were classified into 12 linkage groups, covering 1,884 Kosami centimorgan (cM) with an average of 11.6 cM. Five QTLs (qBPR3, qBPR6, qBPR7, qBPR8, and qBPR12) associated with BPH resistance were identified and mapped on chromosomes 3, 6, 7, 8, and 12, respectively, using the genetic map constructed in this study. To analyze the relationship between BPH resistance and agronomic traits, a total of eight QTLs related to the agronomic traits were detected on 12 rice chromosomes. In an analysis of relationships, three QTLs (qBPR3, qBPR7, and qBPR8) showed a linkage with tested agronomic traits. A QTL (qBPR3) located on chromosome 3 (RM282-3023) was closely linked to culm length (qCL3). The QTL (qBPR8) for BPH resistance on the short arm of chromosome 8 also overlapped the region detected in culm length (qCL8).

ON p, q-DIFFERENCE OPERATOR

  • Corcino, Roberto B.;Montero, Charles B.
    • Journal of the Korean Mathematical Society
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    • v.49 no.3
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    • pp.537-547
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    • 2012
  • In this paper, we define a $p$, $q$-difference operator and obtain an explicit formula which is used to express the $p$, $q$-analogue of the unified generalization of Stirling numbers and its exponential generating function in terms of the $p$, $q$-difference operator. Explicit formulas for the non-central $q$-Stirling numbers of the second kind and non-central $q$-Lah numbers are derived using the new $q$-analogue of Newton's interpolation formula. Moreover, a $p$, $q$-analogue of Newton's interpolation formula is established.

ON THE (p, q)-ANALOGUE OF EULER ZETA FUNCTION

  • RYOO, CHEON SEOUNG
    • Journal of applied mathematics & informatics
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    • v.35 no.3_4
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    • pp.303-311
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    • 2017
  • In this paper we define (p, q)-analogue of Euler zeta function. In order to define (p, q)-analogue of Euler zeta function, we introduce the (p, q)-analogue of Euler numbers and polynomials by generalizing the Euler numbers and polynomials, Carlitz's type q-Euler numbers and polynomials. We also give some interesting properties, explicit formulas, a connection with (p, q)-analogue of Euler numbers and polynomials. Finally, we investigate the zeros of the (p, q)-analogue of Euler polynomials by using computer.

q-SOBOLEV ORTHOGONALITY OF THE q-LAGUERRE POLYNOMIALS {Ln(-N)(·q)}n=0 FOR POSITIVE INTEGERS N

  • Moreno, Samuel G.;Garcia-Caballe, Esther M.
    • Journal of the Korean Mathematical Society
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    • v.48 no.5
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    • pp.913-926
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    • 2011
  • The family of q-Laguerre polynomials $\{L_n^{(\alpha)}({\cdot};q)\}_{n=0}^{\infty}$ is usually defined for 0 < q < 1 and ${\alpha}$ > -1. We extend this family to a new one in which arbitrary complex values of the parameter ${\alpha}$ are allowed. These so-called generalized q-Laguerre polynomials fulfil the same three term recurrence relation as the original ones, but when the parameter ${\alpha}$ is a negative integer, no orthogonality property can be deduced from Favard's theorem. In this work we introduce non-standard inner products involving q-derivatives with respect to which the generalized q-Laguerre polynomials $\{L_n^{(-N)}({\cdot};q)\}_{n=0}^{\infty}$, for positive integers N, become orthogonal.