Genetic counseling on amniocyte level II mosaicism

Chromosomal Mosaicism and Uniparental Disomy in Prenatal Diagnosis: Clinical Implications for Genetic Counseling

Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome.

A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.

Genetic 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...

From 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...

Genetic 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...