• Journal of Genetic Medicine
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• 제4권1호
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• pp.6-14
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• 2007

• Journal of Genetic Medicine
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• 제19권1호
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• pp.14-21
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• 2022

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.132-136
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• 2021

Maturity-onset diabetes of the young (MODY) is caused by autosomal dominant pathogenic variants in one of 14 currently known monogenic genes. Characteristics of patients with MODY include early-onset clinical disease with a family history of diabetes and negative autoantibodies and may present with heterogeneous phenotypes according to the different subtypes. Here, we report a patient with early-onset diabetes who presented asymptomatic mild fasting hyperglycemia with the absence of autoantibodies. She was diagnosed with glucokinase (GCK)-MODY caused by a GCK variant, c.1289T>C (p.L430P), identified by targeted gene-panel testing, and the affected father had the same variant. We interpreted this rare missense variant as a likely pathogenic variant and then she stopped taking oral medication. This case highlights the usefulness of gene-panel testing for accurate diagnosis and appropriate management of MODY. We also note the importance of familial genetic testing and genetic counseling for the proper interpretation of MODY variants.

• Clinical and Experimental Pediatrics
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• 제63권6호
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• pp.195-202
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• 2020

Developments in next-generation sequencing (NGS) techogies have assisted in clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances in DNA sequencing technology have not only allowed the evolution of targeted panels but also, and more currently enabled genome-wide analyses to progress from research era to clinical practice. Broad acceptance of accuracy-guided targeted gene panel, whole-exome sequencing (WES), and whole-genome sequencing (WGS) for DD/ID need prospective analyses of the increasing cost-effectiveness versus conventional genetic testing. Choosing the appropriate sequencing method requires individual planning. Data are required to guide best-practice recommendations for genomic testing, regarding various clinical phenotypes in an etiologic approach. Targeted panel testing may be recommended as a firsttier testing approach for children with DD/ID. Family-based trio testing by WES/WGS can be used as a second test for DD/ID in undiagnosed children who previously tested negative on a targeted panel. The role of NGS in molecular diagnostics, treatment, prediction of prognosis will continue to increase further in the coming years. Given the rapid pace of changes in the past 10 years, all medical providers should be aware of the changes in the transformative genetics field.

• Journal of Genetic Medicine
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• 제8권2호
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• pp.100-104
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• 2011

유전자 검사는 생명과학의 발달과 더불어 질병 진단 및 연구의 중요한 수단으로 일반화되고있으나, 태아에 대한 유전자 검사는 자기결정권이 없는 태아를 대상으로 하기 때문에 또 다른 윤리적, 사회적 문제가 있을 수 있으므로 특별한 주의를 기울여야 한다. 따라서 태아 유전자 검사를 시행하기 전에 유전 상담이 충분히 이루어져서 부모에게 병의 진단, 자연경과, 가능한 치료를 이해시키며, 질환의 유전방식과 가족의 재발 위험도를 평가하고 그에 따른 가능한 선택을 제시하여 가족들이 질환에 대해 최선의 결정을 할 수 있게 도움을 주어야 한다. 뿐만 아니라 태아 유전자 검사에 대한 현행법의 합리적인 법률 개정도 뒷받침되어야 한다.

• Annals of Clinical Neurophysiology
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• 제23권1호
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• pp.53-55
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• 2021

Congenital myasthenic syndromes (CMSs) are rare genetic disorders characterized by weakness and fatigue resulting from impaired neuromuscular transmission. Genetic testing can confirm the diagnosis for some types of CMS; however, variations in genotype, clinical phenotypes, age at disease onset, and responses to treatment make diagnosis very difficult. Here we present two adult patients who had significant decremental responses in repetitive nerve stimulation testing and multi-minicore pathology, and who responded to treatment with a cholinesterase inhibitor.

• 한국간호교육학회지
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• 제19권4호
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• pp.675-683
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• 2013

Purpose: Nineteen articles were analyzed to gather opinions and nursing implications about NIPT recently launched. Methods: Nineteen articles were selected from EBSCO (eBook business collection), Google Scholar, and two Korean academic d-bases with key words 'prenatal screening testing', 'prenatal genetic diagnostic testing', NIPT or 'cell free DNA (cfDNA)'. Authors developed a framework for analyzing the 19 articles including opinions and suggestions for future implications. Results: Eleven articles written by the first author affiliated with medicine or genetics, viewed NIPT as promising because of safety, accuracy, early detectability and cost effectiveness. Articles written by journalists or authors affiliated with history and ethics were concerned with the possible risk of ELSI (ethical, legal, social issues), erratic interpretation of test results, and lack of genetic counseling service. Conclusion: With consideration of Korean clinical, and legal circumstances, not only pregnant women and families but also health professionals must prepare for clinical NIPT implications including updating prenatal genetic testing, counseling services, protecting ELSI and amulticultural team approach.

• 한국발생생물학회지:발생과생식
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• 제19권2호
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• pp.111-118
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• 2015

This article explores the questions regarding PND and PID, especially the concrete legal conditions for the justification of PND and PID. As such, the German law stipulating PND and PID in a very concrete and detailed manner is introduced and explained in comparison with the corresponding South Korean law. The South Korean Bioethics and Biosafety Act (BBA) stipulates various types of gene testing and does not demonstrate a delicate sense of each type of gene testing. In contrast to the South Korean regulation, in Germany, there exist specific regulations for genetic counseling. Especially in the case of PND, GEKO stipulates the process of genetic counseling very concretely, based on GenDG. In the case of PND and PID, it is important that the people concerned understand the meaning of testing in various angles, and restructuralize it by combining it with their own values as the diagnosis is directly combined with pregnancy/abortion, which influences the whole life of a woman (and her partner). In this context, the South Korean BBA needs to be amended as soon as possible. The sections on informed consent also need to be amended to make them more concrete. Furthermore, guidelines for concretizing the regulation of BBA need to be continuously formulated and developed.

• 한국간호교육학회지
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• 제12권1호
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• pp.104-114
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• 2006

Genetic knowledge for oncology nurses is important in Korea because oncologists are incorporating genetic counseling and genetic testing into their practice. The purpose of this paper is to describe our method of developing the first academic cancer genetic risk assessment and counseling course for Korean nurses. A one-week (non-credit) cancer genetics counseling program was constructed for master's level Korean oncology nurses. The course emphasized basic genetic concepts and principles the genetics of cancer; hereditary cancer syndromes; family history assessments; pedigree construction; risk calculation; surveillance recommendations and treatment options ethical, legal, social, and psychological issues inherent in genetic testing. The goals of this program are to: 1) provide a comprehensive knowledge base for nurses who are currently expanding their scope of practice into the genetic counseling role 2) introduce this knowledge to nurses who want to use it in their practice; and 3) provide cancer genetic knowledge and resources to Korean nursing faculty who plan to incorporate this knowledge into existing master's courses. This academically-based course is recognized as valuable by nurses, nursing faculty, and physicians. With this new knowledge nurses can begin toexpand their role in delivering comprehensive cancer care services.

• 한국임상수의학회지
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• 제23권2호
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• pp.207-210
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• 2006

A probable case of superfetation in a Korean native cow met in a small farm located in Imsil Gun, Chonbuk. The cow delivered twice a living male and female calves in September 4 and December 9, 2004, respectively. Thus, we determined whether this case is a case of superfetation using parentage testing technique. The parentage testing was carried out for a dam and two calves using microsatellite DNA and blood typing. As the calves had at least one of the alleles on all marker tested that existed in dam, it was estimated that both of the calves were offsprings of the cow, and that they came from superfetation.