Genetic Counseling in Mitochondrial Disease
نویسندگان
چکیده
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 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...
متن کاملMitochondrial DNA and genetic disease.
From their very beginning to the present day, mitochondria have evolved to become a crucial organelle within the cell. The mitochondrial genome encodes only 37 genes, but its compact structure and minimal redundancy results in mutations on the mitochondrial genome being an important cause of genetic disease. In the present chapter we describe the up-to-date knowledge about mitochondrial DNA str...
متن کاملFrom genetic counseling to “genomic counseling”
Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and interpreting the family and medical history, risk assessment, a comprehensive educational process for potential genetic testing, informed consent, and psychosocial assessment a...
متن کاملGenetic Counseling and Genetic Screening
major congenital anomaly. About one half of these anomalies are detected at birth; the remainder becomes evident later in childhood or, less often, adulthood. Although nongenetic factors may cause malformations, genetic factors are usually responsible. In addition, more than 50 percent of fi rst-trimester spontaneous abortions and at least 5 percent of stillborn infants have chromosomal abnorma...
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ژورنال
عنوان ژورنال: Neurotherapeutics
سال: 2012
ISSN: 1933-7213,1878-7479
DOI: 10.1007/s13311-012-0173-2