منابع مشابه
Genetic counseling in Pompe disease
Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glucosidase enzyme by which it is degraded. It is a rare disease, accounting for 1:40.000 births. It is inherited as an autosomal recessive trait so that a couple presents a recurrent risk of 25% to have a child affected, at each pregnancy. The diagnosis could be achieved by biochemical and/or molec...
متن کاملprenatal diagnosis and genetic counseling for niemann-pick c disease
how to cite this article: javadzadeh m. prenatal diagnosis and genetic counseling for niemann-pick c disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 22. pls see pdf.
متن کاملGenetic Counseling for Obstetricians
Clinical genetics is one of the most rapidly advancing fields in medicine. Spectacular progress has been achieved in this century with unraveling of the entire draft sequence of the human genome and identification of greater than 14,000 single gene disorders. A major contribution of these advances has been in diagnosis, management and prenatal diagnosis of genetic disorders, as the treatment in...
متن کاملPedigree Analysis for Genetic Counseling
We report on the design and implementation of a prototype program, GENINFER , to assist genetic counselors in evaluating the risk of recurrence of genetic disorders based on the analysis of family pedigrees. The present version of the program integrates a convenient graphical interface that permits counselors to draw, examine and modify family pedigrees and to enter information relevant to ri...
متن کاملGenetic counseling.
OBJECTIVE The objective of this review of genetic counseling (GC) is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family. SOURCES The concepts presented are based on an his...
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ژورنال
عنوان ژورنال: Journal of Nihon University Medical Association
سال: 2014
ISSN: 0029-0424,1884-0779
DOI: 10.4264/numa.73.116