Basics of Genetic Assessment and Counseling
3/2/98

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Table of Contents:

What is Genetic Counseling?

What Information should be provided?

Steps in Genetic Counseling

Establishing the Diagnosis

Establishing the Diagnosis

Genetic Heterogeneity

Genetic Heterogeneity

Etiologic heterogeneity

Calculating and Presenting the Risk

Presenting the Risk

Quantification

Quantification

Qualification - Nature of a Risk

Placing Risks in Context

Discussing the Options

Discussing the Options

Communication and Support

Communication and Support

Counseling

Directive or Non-Directive

Special Problems in Genetic Counseling

Consanguinity and Incest

Proportion of Genes Shared

PPT Slide

Adoption and Genetic Disorders

Frequencies of three main types of abnormalities in the children of incestuous relationships

Marriage Between Blood Relatives

Paternity Testing

Chromosome Disorders Introduction

Incidence: Chromosome Abnormalities

Chromosome Abnormalities in SAB

Incidence: Chromosome Abnormality at term

Chromosome Deletion Syndromes

Microdeletion Syndromes

Microdeletion Syndromes

Lessons form Microdeletion Syndromes

Retinoblastoma

Wilm’s tumor

WAGR Syndrome

Wilms Tumor

Angelman and Prader-Willi S.

Imprinting - Angelman + PWS

AS and PWS

AS and PWS

DiGeorge and Shprintzen S

Triploidy 69, XXX; 69, XXY; 69, XYY

Hypomelanosis of Ito

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