We report a case of a 41-year-old female with acrogeria. She was in good health except for the prominent atrophy over the hands and feet. On microscopic examination of a biopsy specimen from the atropl6c skin, elastic fibers were clumped and fragmented. Electronmicroscopy revealed amorphous and granulous pseudoelastin, which is presumed to be consistent with acrogeria. Our patient had acro-osteolysis and an extra chromosome in addition to the normal 23 pairs of chromosomes in one of 20 cells examined, which have been very rarely reported in the literature. Further studies are needed to find out whether this chromosomal aberration might contribute to the pathogenesis.
Acro-Osteolysis ; Adult ; Atrophy ; Biopsy ; Chromosome Aberrations ; Elastic Tissue ; Female ; Foot ; Hand ; Humans ; Skin

Over the years Korean health care system has improved in delivery of quality care to the general population for many areas of the health problems. The system is now being recognized in the world as the most cost effective one. It is covered by the uniform national health insurance policy for which most people in Korea are mandatory policy holders. Genetic counseling service, however, which is well recognized as an integral part of clinical genetics service deals with diagnosis and management of genetic condition as well as genetic information presentation and family support, is yet to be delivered in comprehensive way for the patients and families in need. Two major obstacles in providing genetic counseling service in korean health care system are identified; One is the lack of recognition for the need for genetic counseling service as necessary service by the national health insurance. Genetic counseling consumes a significant time in delivery and the current very low-fee schedule for physician service makes it very difficult to provide meaningful service. Second is the critical shortage of qualified professionals in the field of medical genetics and genetic counseling who can provide the service of genetic counseling in clinical setting. However, recognition and understanding of the fact that the scope and role of genetic counseling is expanding in post genomic era of personalized medicine for delivery of quality health care, will lead to the efforts to overcome obstacles in providing genetic counseling service in korean health care system. Only concerted efforts from health care policy makers of government on clinical genetics service and genetic counseling for establishing adequate reimbursement coverage and professional communities for developing educational program and certification process for professional genetic counselors, are necessary for the delivery of much needed clinical genetic counseling service in Korea.
Accreditation ; Administrative Personnel ; Appointments and Schedules ; Certification ; Counseling ; Delivery of Health Care ; Genetic Counseling ; Genetics, Medical ; Humans ; Precision Medicine ; Korea ; National Health Programs

he successful completion of Human Genome Project (HGP) and further advances in genomic research and technology ushered a new era of genetic medicine in the 21st century. The discovery of a gene-disease association lays the groundwork for the development of a genetic test. Clinical applications of genetic information and tools have provided us with the ability to perform a wide range of DNA testing for the diagnosis of various genetic diseases in patients as well as predicting the disease and disease susceptibility among presymptomatic family members at risk. Thus, the introduction of a new genetic testing may have complex implications for patients, family members, and the society. Guidelines for genetic testing have been developed not only to insure the accuracy of testing with the analytical validity, clinical validity, and clinical utility itself, but also to provide an implicit guide to ethical, legal and social issues (ELSI). Non-directive genetic counseling prior to genetic testing can provide patients with clinical implications of testing in terms of its benefits as well as risks, and help the patient to prepare informed consent, while efforts are made to insure privacy and confidentiality of individual genetic information. Ensuring the appropriate use of genetic testing in Korean health delivery system requires multidisciplinary efforts for the development of practice guidelines and educational programs for clinical genetics professionals including genetic counselors as well as governmental regulatory implementation for ELSI of genetic testing.
Confidentiality ; Counseling ; Diagnosis ; Disease Susceptibility ; DNA ; Genetic Counseling* ; Genetic Testing* ; Genetics ; Human Genome Project ; Humans ; Informed Consent ; Privacy

PURPOSE: This study was undertaken to provide the framework for development of a genetic counseling training program, and an accreditation and certification process suitable for non-M.D. genetic counselors in Korea. MATERIALS AND METHODS: Global standards of genetic counseling curriculums, training program accreditation (TPA), and the certification process for genetic counselors (CPGC) in the U.S.A and Japan were reviewed, and a questionnaire survey was performed to elicit opinions among health-care providers including physicians, nurses, technicians, researchers, and educators. In addition, input from professional communities, including the Korean Society of Medical Genetics (KSMG) and Institute for Genetic Testing Evaluation, was sought in formulating the framework of this study. RESULTS: Comparison of U.S.A. and Japan educational systems showed similarities in curriculum, accreditation, and certification programs. Analysis of 117 respondents opinions showed a high level of agreement in the area of global standards; 88% indicated that KSMG should be in charge of TPA and CPGC, while 77% favored a certification exam composed of both written exam and interview components. CONCLUSION: Based upon this study we propose that the KSMG should be in charge of providing the TPA and CPGC for non-MD genetic counselors. Requirements for the entrance to a Master's degree genetic counseling program should be open to successful four year undergraduate students in all areas, provided the candidates demonstrate the abilities to master the graduate level of study in human genetics, clinical genetics, statistics, psychology, and other required subjects. Eligibility for certification should include qualified candidates of genetic counseling with no formally approved education, but a sufficient amount of clinical experience, in addition to accredited program graduates. Certification examinations should be carried out every two years and the certification should be good for five years, as is the case in Japan.
Accreditation ; Certification ; Counseling ; Curriculum ; Surveys and Questionnaires ; Fees and Charges ; Genetic Counseling ; Genetic Testing ; Genetics, Medical ; Humans ; Japan ; Korea

Unprecedented amount of genetic information being generated from the result of Human Genome Project (HGP) and advances in genetic research is already forcing changes in the paradigm of health and disease. The ultimate goal of genetic medicine is to use genetic information and technology to develop new ways of treatment or even prevention of the disease on an individual level for 'personalized medicine'. Genetics is playing an increasingly important role in the diagnosis, monitoring and management of common multifactorial diseases in addition to rare single-gene disorders. While wide range of genetic testing have provided benefits to patients and family, uncertainties surrounding test interpretation, the current lack of available medical options for the diseases, and risks for discrimination and social stigmatization may remain to be resolved. However an increasing number of genetic tests are becoming commercially available, including direct to consumer genetic testing, yet public is often unaware of their clinical and social implications. The personal nature of information generated by a genetic test, its power to affect major life decisions and family members, and its potential misuse raise important ethical considerations. Therefore appropriate genetic counseling is needed for patient to be informed with the benefits, limitations and risks of genetic tests, prior to informed consent for the tests. Physician also should be familiar with the legal and ethical issues involved in genetic testing to tell patients how well a particular genetic risk factor relates with likelihood of disease, and be able to provide appropriate genetic counseling. Genetic counseling become a mandatory requirement as global standard for many genetic testing such as prenatal diagnosis, presymtomatic DNA diagnostic tests and cancer susceptibility gene test for familial cancer syndrome. In oder to meet the challenge of genetic medicine of 21 century in korean health care system, professional education program and certification board for medical genetics specialist including non-MD genetic counselors should be addressed by medical society and regulatory policy of national health insurance reimbursement for genetic counseling to be in place to promote the implementation of clinical genetic service including genetic counseling for proper genetic testing.
Humans ; Risk Factors

Kabuki syndrome is characterized by long palpebral fissures, large ears, a depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. There have been few prior detailed descriptions of strabismus or stereopsis in these patients. We report a patient with Kabuki syndrome who showed small-angle strabismus and poor stereopsis. This case illustrates the need for patients with a diagnosis of Kabuki syndrome to have an ophthalmologic evaluation. Strabismus associated with Kabuki syndrome may have a small angle that can be easily overlooked.
Abnormalities, Multiple/physiopathology ; Child ; Face/abnormalities/physiopathology ; Female ; Hematologic Diseases/complications/physiopathology ; Humans ; Strabismus/*etiology/physiopathology ; Vestibular Diseases/complications/physiopathology ; *Vision, Binocular ; *Visual Acuity

PURPOSE: The necessity of professional non-MD genetic counselor has been recently emphasized in a medical field. By conducting a national survey on the demands for generic counseling and professional non-MD generic counselor, we can make a long-term master plan to execute the educational program for professional genetic counselors and indeed promote genetic counseling in Korean health care service in a systemic manner. METHODS: The survey has been conducted from September 3rd to October 4th of 2007 in a way of e-mail, telephone interview, fax, and direct contacts. It's targets were senior researchers and professors in medical and non-medical institutions, policy makers, research institutions or foundations. The survey questions consist of 16 questionnaires. RESULTS: As a result of survey, 102 of 650 people responded. 80% of respondents indicated that genetic counseling is needed as a health care service and 34% among them considered it as "the most needed". In addition, 77% of the respondents showed that, it is necessary to have a professional non-MD genetic counselor with a master degree or higher in the field of medical genetics and among them 29% thought it as "the most necessary". A 77% of respondents considered that the cost of genetic counseling should be covered by health insurance and among them, 29% answered "strongly agreed". A 56% of respondents chose the answer of "They have a plan to hire the professional non-MD genetic counselor" in their institution, and among them 71% selected "within 5 years" in terms of when to hire. Also, they tend to expect the role of the professional non-MD genetic counselor to be not only "genetic counselor" (60%), but also "researcher" (42%), "educator" (18%) and "clinical laboratory coordinator" (19%). CONCLUSION: The 102 of 650 people responded to the survey. Based upon the nationwide survey over the needs on genetic counseling in health care service and demands on the professional non-MD genetic counselor, systematic educational program for the genetic counseling, with reimbursement coverage for counseling service by health insurance should be emphasized in development of a master plan.
Administrative Personnel ; Counseling* ; Surveys and Questionnaires ; Delivery of Health Care ; Electronic Mail ; Foundations ; Genetic Counseling* ; Genetics, Medical ; Humans ; Insurance, Health ; Interviews as Topic

PURPOSE: The objectives were to examine following 2 questions related to cognitive profile for the children with Williams syndrome (WS); 1) Is there a significant advantage for verbal IQ over performance IQ in WS?; 2) Is there selective impairment in visuospatial ability in the children with WS? MATERIALS AND METHODS: Five children with WS with the age of 90.86+/-20.73 months were compared with 12 children with Prader-Willi syndrome (PWS) or Down syndrome (DS) with comparable age and IQ. RESULTS: All 5 children with WS showed intellectual disability whose mean scaled scores were 15.71+/-9.27 in verbal subtests and 14.29+/-7.50 in performance subtests, which did not show significant difference. There was no significant difference in the total sum of scaled scores of verbal subtests among WS, PWS and DS. There was no selective impairment in subtests which represented visuospatial tasks for the children with WS. However, the scaled score of object assembly was significantly lower in WS (2.29+/-0.95) compared to that of PWS (4.75+/-2.77; P<0.05). CONCLUSION: The general notion that the children with WS would be relatively strong in verbal function when compared with their overall cognitive function was not observed in this study. The verbal function of the children with WS was not better when compared to the children with DS or PWS. There was no selective impairment of visuospatial function in the children with WS at this age. However, the visuospatial function was significantly low in the children with WS only when compared to the children with PWS.
Child ; Down Syndrome ; Humans ; Imidazoles ; Intellectual Disability ; Nitro Compounds ; Prader-Willi Syndrome ; Williams Syndrome

PURPOSE: Fragile X syndrome (FXS) is the most common heritable cause of cognitive impairment. FXS is caused by hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retadation-1(FMR1) gene. Combination of Southern blotting and simple polymerase chain reaction(PCR) amplification of the FMR1 repeat region is commonly used for diagnosis in females. To give a definite diagnosis in a female child suspected of having FXS, we carried out the molecular diagnostic test for FXS using the recently developed Abbott Molecular Fragile X PCR Kit. METHODS: The PCR amplification of the FMR1 repeat region was performed using the Abbott Mdecular Fragile X PCR Kit. The amplified products were analyzed by size-separate analysis on 1.5% agarose gels and by DNA fragment analysis using Gene scan. RESULTS: Agarose gel and Gene scan analyses of PCR products of the FMR1 repeat region showed that the patient had two heterozygous alleles with a normal 30 repeats and full mutation of >200 repeats whereas her mother had two heterozygous alleles with the normal 30 repeats and premutation of 108 repeats, suggesting that the premutation of 108 repeats in her mother may have led to the full mutation of >200 repeats in the patient. CONCLUSION: We diagnosed FXS in a female patient using a simplified molecular diagnostic test. This commercially available diagnostic test for FXS, based on PCR, may be a suitable alternative or complement method to Southern blot analysis and PCR analysis and/or methylation specific(MS)-PCR analysis for the molecular diagnosis of FXS in both males and females.
5' Untranslated Regions ; Alleles ; Blotting, Southern ; Child ; Complement System Proteins ; Diagnostic Tests, Routine ; DNA ; Female ; Fragile X Syndrome ; Gels ; Humans ; Male ; Methylation ; Mothers ; Pathology, Molecular ; Polymerase Chain Reaction ; Sepharose ; Trinucleotide Repeats

More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.
Brain ; Connective Tissue ; Copper ; Diagnosis ; Female ; Gastrointestinal Tract ; Genetic Testing* ; Hair ; Humans ; Jurisprudence ; Korea* ; Live Birth ; Male ; Menkes Kinky Hair Syndrome ; Pregnancy ; Prenatal Diagnosis ; Prevalence