Prerequisites

1.  Basic knowledge of gene structure and function

2.  Basic mechanisms of inheritance: multifactorial inheritance, the "carrier state", genes and linkage

3.  Basic embryology

Learning Objectives

Activities

H.1

Collect relevant information, including history and physical exam, to evaluate a genetic disorder or congenital defect.  Construct a family pedigree

Lecture on Genetic Topics

H.2

Recognize common physical exam findings and implications associated with the diagnosis of:

!                   chromosomal abnormalities (eg. Trisomy 21)

!                   sex chromosome abnormalities (eg.  Turner's syndrome, Klinefelter syndrome, Fragile X syndrome)

!                   other genetic disorders (eg.  Cystic fibrosis, sickle cell disease)

!                   congenital malformations (eg. Spina bifida)

H.3

Identify commonly used prenatal diagnostic techniques and their uses, eg. Alpha fetoprotein, amniocentesis

H.4

Discuss the effects of teratogenic agents including:

!                   alcohol

!                   hydantoin

!                   maternal tobacco smoking

!                   illicit drug use

H.5

Describe common signs and symptoms of infants presenting with inborn error of metabolism (eg. Methylmalonic acidemia)