Genetic counseling 1. Significance of genetic counseling 2. steps A.make the definitive diagnosis genetic disease/congenital disease/familial disease/ B predict the effects on their offspring Autosomal dominant disease expressed even when only one chromosome of a pair carries an abnormal allele
Genetic counseling • 1.significance of genetic counseling • 2.steps • A.make the definitive diagnosis • genetic disease/congenital disease/familial disease/ • B.predict the effects on their offspring • Autosomal dominant disease:expressed even when only one chromosome of a pair carries an abnormal allele
Autosomal recessive disease: expressed only when both chromosomes of a pair carry an abnormal allele X-linked dominant X-linked recessive Multiple-gene disorders Chromosomal disorders
• Autosomal recessive disease: expressed only when both chromosomes of a pair carry an abnormal allele. • X-linked dominant • X-linked recessive • Multiple-gene disorders • Chromosomal disorders
3. risk assessment Appreciation of disk for a genetic condition is directly related to the degree of assurance that a diagnosis truly exists without an exact diagnosis, a risk assessment is difficult or impossible. Four questions present themsel ves each time a patient is seen by a geneticist or genetic counselor
3.risk assessment • Appreciation of disk for a genetic condition is directly related to the degree of assurance that a diagnosis truly exists without an exact diagnosis, a risk assessment is difficult or impossible. Four questions present themselves each time a patient is seen by a geneticist or genetic counselor: