본문 바로가기
HOME> 저널/프로시딩 > 저널/프로시딩 검색상세

저널/프로시딩 상세정보

권호별목차 / 소장처보기

H : 소장처정보

T : 목차정보

Journal of genetic medicine 10건

  1. [국내논문]   Clinical significance of sonographic soft markers: A review   KCI

    Kim, Mi Sun (Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University School of Medicine ) , Kang, Sukho (Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University School of Medicine ) , Cho, Hee Young (Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University School of Medicine)
    Journal of genetic medicine v.15 no.1 ,pp. 1 - 7 , 2018 , 1226-1769 ,

    초록

    Sonographic findings with little or no pathological significance, known as soft markers, are often found in aneuploidy fetuses. After normal screening for the aneuploidy in first trimester, there are no uniform recommendations regarding when to disregard or put on clinical significance in isolated soft markers. Associations between some soft markers and adverse pregnancy outcomes including intrauterine fetal death, preterm birth, fetal growth restriction, and congenital infection have been reported in euploidy fetuses. The present article aims to review recent literatures about the clinical significance of soft markers after normal first trimester combined screening or noninvasive prenatal testing, and propose a simple clinical summary for management of specific soft markers in pregnancies.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  2. [국내논문]   Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations   KCI

    Seong, Eui Sun (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine ) , Youn, Hye Jin (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine ) , Park, Min Kyung (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine ) , Boo, Hye Yeon (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine ) , Lee, Bom Yi (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center ) , Ryu, Hyun Mee (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine ) , Han, You Jung (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine)
    Journal of genetic medicine v.15 no.1 ,pp. 8 - 12 , 2018 , 1226-1769 ,

    초록

    Purpose: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. Materials and Methods: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. Results: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. Conclusion: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  3. [국내논문]   A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis   KCI

    Kim, Da Hyun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Heo, Sun Hee (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Seo, Go Hun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Oh, Arum (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Kim, Taeho (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Yoon, Young Hee (Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine ) , Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
    Journal of genetic medicine v.15 no.1 ,pp. 13 - 16 , 2018 , 1226-1769 ,

    초록

    X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  4. [국내논문]   Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases   KCI

    Cho, Sang-Yeun (Department of Pediatrics, Hanyang University College of Medicine ) , Kim, Ja Hye (Department of Pediatrics, Hanyang University College of Medicine)
    Journal of genetic medicine v.15 no.1 ,pp. 17 - 19 , 2018 , 1226-1769 ,

    초록

    Alkaptonuria (AKU, OMIM: 203500) is a rare autosomal recessive disorder of tyrosine metabolism due to a defect of enzyme activity, homogentisate 1,2-dioxygenase (HGD). The patients with AKU initially presented with dark urine discoloration, and ochronosis and arthritis develop after third decades of life. With advances of Internet resources, web-based health seekers for rare disease are increasing. Here, we report the case of an 18-year-old boy with AKU who visited our center due to dark black urine based on self-diagnosis via web searching of this rare condition. Compound heterozygous mutations in HGD gene, IVS5+3A>C and IVS12+6T>C were identified and both of mutations were detected in his parents. Our case illustrates the utility of publicly available Internet resources for diagnosis of rare disease.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  5. [국내논문]   A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report   KCI

    Choi, Youn Young (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine ) , Woo, Min Hyung (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine ) , Kim, Gi Beom (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine ) , Song, Mi Kyoung (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine ) , Lee, Sang Yoon (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine ) , Bae, Eun Jung (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine ) , Choi, Murim (Department of Biomedical Sciences, Seoul National University College of Medicine ) , Kim, Young-Sook (Computational Biology & Bioinformatics Graduate Program, Duke University)
    Journal of genetic medicine v.15 no.1 ,pp. 20 - 23 , 2018 , 1226-1769 ,

    초록

    Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy's father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy's brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  6. [국내논문]   A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing   KCI

    Hong, Sungwon (Department of Pediatrics, Nowon Eulji Medical Center, Eulji University ) , Lee, Cha Gon (Department of Pediatrics, Nowon Eulji Medical Center, Eulji University)
    Journal of genetic medicine v.15 no.1 ,pp. 24 - 27 , 2018 , 1226-1769 ,

    초록

    Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  7. [국내논문]   A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease   KCI

    Kwon, Soonhak (Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University ) , Park, Jin-Sung (Department of Neurology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University ) , Jung, Jae Hun (Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University ) , Hwang, Su Kyeong (Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University ) , Kim, Yeo Hyang (Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University ) , Lee, Yun Jeong (Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University)
    Journal of genetic medicine v.15 no.1 ,pp. 28 - 33 , 2018 , 1226-1769 ,

    초록

    Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of ${\alpha}$ -galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma ${\alpha}$ -galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  8. [국내논문]   1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction   KCI

    Kim, Yoon Hwa (Department of Obstetrics and Gynecology, Pusan National University School of Medicine ) , Yang, Ju Seok (Department of Obstetrics and Gynecology, Pusan National University School of Medicine ) , Lee, Young Joo (Department of Obstetrics and Gynecology, Pusan National University School of Medicine ) , Bae, Mi Hye (Biomedical Research Institute, Pusan National University Hospital ) , Park, Kyung Hee (Biomedical Research Institute, Pusan National University Hospital ) , Lee, Dong Hyung (Department of Obstetrics and Gynecology, Pusan National University School of Medicine ) , Shin, Kyung-Hwa (Biomedical Research Institute, Pusan National University Hospital ) , Kim, Seung Chul (Department of Obstetrics and Gynecology, Pusan National University School of Medicine)
    Journal of genetic medicine v.15 no.1 ,pp. 34 - 37 , 2018 , 1226-1769 ,

    초록

    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.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  9. [국내논문]   Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12   KCI

    Seo, Go Hun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Kim, Yoon-Myung (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Seo, Eul-Ju (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Choi, Jin Ho (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine ) , Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
    Journal of genetic medicine v.15 no.1 ,pp. 38 - 42 , 2018 , 1226-1769 ,

    초록

    WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지
  10. [국내논문]   Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review   KCI

    Park, Ji Eun (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, Gyeongsang National University College of Medicine ) , Park, Ji Kwon (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, Gyeongsang National University College of Medicine ) , Cho, In Ae (Department of Obstetrics and Gynecology, Gyeongsang National University Hospital, Gyeongsang National University College of Medicine ) , Baek, Jong Chul (Department of Obstetrics and Gynecology, Gyeongsang National University Changwon Hospital, Gyeongsang National University College of Medicine)
    Journal of genetic medicine v.15 no.1 ,pp. 43 - 47 , 2018 , 1226-1769 ,

    초록

    Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we report a case of twin pregnancy with live fetus identified as 45,X and normal placenta and another partial mole. Ultrasound scan at 10 weeks showed a hydrops fetus with a focal area of multicystic placenta. The patient underwent chorionic villus sampling and amniocentesis for chromosomal analysis, and the result was 45,X. Based on these finding, the patient then underwent induced abortion. Pathological examination (immunohistochemical staining) of the placenta confirmed the partial mole. This report suggests that careful prenatal ultrasonography and appropriate karyotyping in a molar pregnancy and coexisting fetus enable early diagnosis and may be beneficial for prognosis.

    원문보기

    원문보기
    무료다운로드 유료다운로드

    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

    이미지

    Fig. 1 이미지

논문관련 이미지