• Journal of Genetic Medicine
• /
• 제18권1호
• /
• pp.48-54
• /
• 2021

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient's mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

• 한국자원식물학회:학술대회논문집
• /
• 한국자원식물학회 2009년도 춘계학술발표회
• /
• pp.59-59
• /
• 2009

• 한국약용작물학회:학술대회논문집
• /
• 한국약용작물학회 2008년도 추계학술발표회
• /
• pp.475-476
• /
• 2008

• 한국약용작물학회:학술대회논문집
• /
• 한국약용작물학회 2011년도 추계학술발표회
• /
• pp.84-85
• /
• 2011

• Journal of the Korean Statistical Society
• /
• 제4권2호
• /
• pp.139-151
• /
• 1975

Individual effect of genes controlling quantitative traits can not ordinarily be distinguised from one another. Consequently, it is not possible to determine the mode of inheritance for single genes. By studying their combined effectsin segregating generations, however, one can gain some insight into their behavior and can make statistical inferences about their average gene action. The investigation reported herein was to extend genetic variance components and variance and covariance analyses, special attention was given to the genetic statistics from which least square estimators of genetic parameters are obtained.

• 대한전기학회논문지:전력기술부문A
• /
• 제49권10호
• /
• pp.479-485
• /
• 2000

This paper presents a analysis method for dynamic characteristics of power system using a Genetic-based Power System Stabilizer(PSS). The proposed PSS parameters are optimized using Genetic Algorithm(GA) in order to maintain optimal operation of generator under the various operating conditions. To decrease the computational time, real variable string is adopted. The results tested on a single machined infinite bus system verify that the proposed controller has better dynamic performance than conventional controller.

• 한국자원식물학회:학술대회논문집
• /
• 한국자원식물학회 2008년도 추계학술발표회
• /
• pp.71-71
• /
• 2008

• 한국약용작물학회:학술대회논문집
• /
• 한국약용작물학회 2008년도 춘계학술발표회
• /
• pp.302-303
• /
• 2008

• 한국약용작물학회:학술대회논문집
• /
• 한국약용작물학회 2008년도 춘계학술발표회
• /
• pp.67-68
• /
• 2008

• Computers and Concrete
• /
• 제27권1호
• /
• pp.63-71
• /
• 2021

In this study, a new stopping criterion, called "backward controlled stopping criterion" (BCSC), was proposed to be used in Genetic Algorithms. In the study, the available stopping citeria; adaptive stopping citerion, evolution time, fitness threshold, fitness convergence, population convergence, gene convergence, and developed stopping criterion were applied to the following four comparison problems; high strength concrete mix design, pre-stressed precast concrete beam, travelling salesman and reinforced concrete deep beam problems. When completed the analysis, the developed stopping criterion was found to be more accomplished than available criteria, and was able to research a much larger area in the space design supplying higher fitness values.