Clinical Genetics

You will be examining patients with structural defects and genetic disorders, while developing a practical approach to evaluating, managing and providing genetic counseling to individuals and families directly and indirectly affected by genetic disorders and birth defects.

Laboratory experiences in cytogenetics, biochemical genetics and molecular genetics form an integral part of your training.

This rotation is primarily an outpatient experience; however, while rotating on the service you will also perform inpatient consultations with the attending physician on service.

In addition to evaluating children and families for inherited forms of disease, the elective will present an in-depth experience of medical genetics as a subspecialty, including evaluating and designing anticipatory treatment plans for individuals with:

• relatively common inherited diseases (i.e., Marfan syndrome, Ehlers-Danlos syndrome, neurofibromatosis type 1)
• chromosomal abnormalities (i.e., Down syndrome and trisomy 18)
• microdeletion disorders (i.e., William syndrome and velo-cardio-facial syndrome)
• syndromic developmental disorders
• inborn errors of metabolism
• syndromic and non- syndromic forms of mental retardation and autism
• congenital birth defects

Special attention will be paid to learning to work with and for children with chronic medical problems to provide caring and effective medical care and accurate medical genetic counseling.

Your patients may present with:

• birth defects
• developmental delays
• metabolic disorders
• recurrent pregnancy loss
• risk factors such as exposure to known teratogens 
• family history of heritable disorders

You will learn to recognize the clinical manifestations of common chromosomal disorders, arrange and interpret karyotypes, understand the principles of mitochondrial disease, and understand how molecular analyses can be used to diagnose and manage genetic diseases.

• PGY-2, PGY-3 or PGY-4

4 weeks

• mostly urban with a large racial and ethnic diversity