• Journal of Genetic Medicine
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• v.15 no.1
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• pp.34-37
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• 2018

A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract, and thrombocytopenia absent radius syndrome. We reported a neonate with confirmed intrauterine growth restriction (IUGR), micrognathia, glossoptosis, upper airway obstruction, facial dysmorphism, and eye abnormality at birth as well as developmental delay at the age of 1 year. These clinical manifestations, except for the IUGR and upper airway obstruction, in the neonate indicated a 1q21.1 microdeletion. Here, we report a rare case of a 1q21.1 microdeletion obtained via paternal inheritance in a newborn with upper airway obstruction caused by glossoptosis and tracheal stenosis.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.115-118
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• 2011

Angelman syndrome(AS) is a rare genetic neurological disorder. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, speech impairment, jerky movements especially hand-lapping, frequent laughter or smiling. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking/swallowing disorder, mandibular prognathism, frequent drooling, and excessive chewing behavior. The purpose of this paper is to describe the interesting aspects of the dental treatment of a childe with AS.

• Journal of KIISE:Computer Systems and Theory
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• v.30 no.5_6
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• pp.250-257
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• 2003

As the memory access time becomes slower relative to the fast processor speed, most systems use cache memory to reduce the gap. The cache performance has an increasingly large impact on the performance of algorithms. Blocking is the well known method to utilize cache and has shown good results in multiplying matrices and search trees like d-heap. But if we use blocking in the data structures which require rotation during insertion or deletion, the execution time increases as the data movements between blocks are necessary. In this paper, we have proposed the extended pairing heap algorithms using block node and shown by experiments that our structure is superior Also in case of using block node, we use less memory space as the number of pointers decreases.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.51-54
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• 2020

Since the American College of Medical Genetics and Genomics and Association of Molecular Pathology published their guidelines in 2015, most interpretations of genetic tests have followed them. However, all variants have only limited evidence along 28 interpretation standards, especially de novo variants. When de novo variants, which are classified as variants of uncertain significance (VUS) due to lack of evidence, are detected, segregation in the affected family could provide an important key to clarifying the variants. Autosomal dominant polycystic kidney disease is the most common inherited kidney disorder with pathogenic variants in the PKD1 or PKD2 genes. We detected a novel in-frame deletion variant in the PKD1 gene, c.7575_7577del (p.(Cys2526del)), which was interpreted as a VUS. We analyzed this variant in a Korean family to decide for segregation. Here, we report the variant as a likely pathogenic variant based on the evidence of segregation in three affected relatives and two unaffected members.

• Journal of the Korea Society of Computer and Information
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• v.24 no.8
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• pp.9-17
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• 2019

In this paper, we propose a block mapping technique applicable to NAND flash memory. In order to use the NAND flash memory with the operating system and the file system developed on the basis of the hard disk which is mainly used in the general PC field, it is necessary to use the system software known as the FTL (Flash Translation Layer). FTL overcomes the disadvantage of not being able to overwrite data by using the address mapping table and solves the additional features caused by the physical structure of NAND flash memory. In this paper, we propose a new mapping method based on the block mapping method for efficient use of the NAND flash memory. In the case of the proposed technique, the data modification operation is processed by using a blank page in the existing block without using an additional block for the data modification operation, thereby minimizing the block unit deletion operation in the merging operation. Also, the frequency of occurrence of the sequential write request and random write request Accordingly, by optimally adjusting the ratio of pages for recording data in a block and pages for recording data requested for modification, it is possible to optimize sequential writing and random writing by maximizing the utilization of pages in a block.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.4
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• pp.257-262
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• 2014

Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastro-intestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prognosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meconium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion ($c.313{\Delta}TATC$; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A). He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management.

• Clinical and Experimental Pediatrics
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• v.46 no.5
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• pp.505-509
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• 2003

Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic work-up revealed hyperuricemia, hyperuricosuria, and medullary nephrolithiasis. The HPRT activity in the erythrocytes was undetectable with a biochemical assay. We also identified de novo mutation which was a deletion of the 649th base, adenosine, in HPRT gene(649delA) by analysis of cDNA using RT-PCR technique coupled with direct sequencing.

• Journal of Dental Rehabilitation and Applied Science
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• v.30 no.2
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• pp.192-198
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• 2014

This case is a porcelain laminate veneer (PLV) and all-ceramic crown treatment case on a female patient in her thirties who visited for esthetic improvement. The patient's chief complaint was protrusive and uneven anterior teeth, and she wanted minimum tooth reduction. The patient was in skeletal class II deep bite. Considering this, check bite method was used for mounting on articulator during diagnostic wax-up. Tooth reduction was done using mock-up base on diagnostic wax-up, and the amount of deletion was checked by index. For the accordance of shade, PLVs were restored in prior to all ceramic crown. After using all-ceramic crown, satisfactory esthetic improvement was obtained.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.49-56
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• 2015

We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)($pter{\rightarrow}q26.3::p11.2{\rightarrow}pter$) by cytogenetic and molecular cytogenetic analyses including high resolution GTG-and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.

• Journal of Genetic Medicine
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• v.11 no.2
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• pp.79-82
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• 2014

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup ($p.S64Kfs^*6$). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.