• Journal of Genetic Medicine
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• 제4권2호
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• pp.133-141
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• 2007

목 적:임상증상으로 정신지체, 발육부진, 소두증 등으로 묘성 증후군(Cri du Chat syndrome, CdCs)으로 의뢰된 20명 환자와 부모를 포함한 분자 및 세포유전학적 결과를 분석하므로, 유전형과 표현형과의 상관관계를 고찰하고자 하였다. 방 법:환자와 부모에 대해 분자세포유전학적(FISH, CGH array)및 세포유전학적 분석을 시행하였고, 이와 함께 임상양상에 대한 비교분석을 시행하였다. 결 과:20명 환자에 대한 5p 결실 양상에 대한 분석 결과 del(5)(p14)이 9명(45%)로 가장 많았으며, del(5)(p13)이 7명(35%), del(5)(p15.1)(15%)이 3명, del(5)(p15.2)이 1명(5%) 순의 결실 양상을 확인하였다. 또한 4명(20%)에서는 5p 결실 외에 다른 염색체(6, 8, 18, 22번)의 결실과 중복이 있음이 확인 되었고, 이중 3명의 환자는 부모 중 한 사람의 균형적 전자에서 기원한 불균형 전자 유형이었다(기원은 부계 2명, 모계 1명). 그리고 5p 결실 부위와 다른 염색체 이상 공존 여부에 따라 매우 다양한 임상적 양상을 나타내었다. 결 론:이와 같이 묘성증후군 환자와 부모를 포함하는 5번 염색체 단완의 결실양상에 대한 분자 세포 유전학 분석에 의한 정확한 결실 부위의 확인과 다른 염색체 이상의 결손과 증폭의 공존 여부를 확인함으로써 유전형과 임상적 표현형과의 상관관계를 이해하는데 유용할 것이라 생각된다. 나아가 묘성 증후군 환자와 가족에 대한 효과적인 유전상담에 도움이 될 것이라 사료된다.

• 한국가족관계학회지
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• 제20권4호
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• pp.47-72
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• 2016

According to the survey by the Ministry of Unification, 28,133 live in South Korea as of september 2015 and the number has been steadily increased. It is interesting to note that the majority of defectors were women. Statistics say that the total of women defectors was 1,138 in 2002 and consisted of 55.5%. But the number increased to 2,706 in 2011 and consisted of 70.5%(Wikipedia, 2015). Most of them have trauma, because they experienced terrible events like prostitution, sexual abuse, domestic violence, etc. while they were living in South Korea. They had to get over a lot of challenges they never expected. They had to do whatever they need to do for their survival in South Korea as well as in North Korea. Objectives: This study focuses on identifying the psychosocial resources available for them in order to help them out living here. Method: For this purpose, this study conducted unstructured in-depth interviews with four women defectors from North Korea. Their age bracket is between the ages of 50 and 58 and they have stayed over five years in South Korea. They were recommended by social welfare workers, who had dealt with them over 20 years. For the reliability of this study, the three methods were performed such as three-month close relationship, three-person triangular verification, and diversification of resources-the field notes and observation notes. Results: As a result of this study, the resources may be labeled into three main clusters of themes such as 1) Self-Preservation - 'Self-Love', 'Family-Attachment', 'Share the Goods', 'Live in Harmony', 'Avoidance of conflict'; 2) Self-Conquest - 'Endurance', 'Earnestness and Effort', 'My own Activities', 'Chat', 'Put Down', 'Appreciation and Optimism'; 3) Self-Presence Awareness - 'I was a Precious Daughter', 'I am Mother'. Also there are thirteen sub categories to be considered. Conclusions: This study focuses on identifying how women defectors have used or can use the psychosocial resources available for them, rather than what they have struggled with. It is meaningful to identify in a positive light that this study provides how they have adjusted to a totally different context for their survival and what psychosocial resources they have used. This study can give an idea about how they may receive proper and practical help from the government programs in order to become better used to new living circumstances in South Korea. As well, this study can provide meaningful criteria and guidance with family life educators for women defectors and social workers working in counseling and social welfare areas. This study contributes to better understanding about how they are using these psychosocial resources.