Clinical Genetics and Dysmorphology

The goals of this course are to provide an opportunity for you to learn the principles of genetics, to examine patients with structural defects and genetic disorders, and to develop a practical approach to the evaluation, management and genetic counseling of individuals and families directly and indirectly affected by genetic disorders and birth defects.

You will participate in the evaluation, care and genetic counseling of inpatients and outpatients at Oishei Children's Hospital, as well as at satellite facilities and other hospitals.

You will learn how to evaluate a patient and their family and develop a rational approach to management.

Laboratory experiences in cytogenetics, biochemical genetics and molecular genetics are considered to be an integral part of the rotation.

A resident project is required. Topics should be discussed with the attending(s), and a presentation is given toward the end of the elective month.

Typical patients encountered will be either affected with or have:

• a family history of a congenital malformation
• a genetic disorder
• a chromosomal abnormality

You will be trained to do the following:

• evaluate a proband or consultant with:
  • a birth defect or developmental delay
  • an inherited metabolic disorder
  • a family history of a heritable disorder
  • recurrent pregnancy loss
  • a risk factor, such as an exposure to a known or suspected teratogen, advanced maternal age, consanguinity, etc.
• understand principles of Mendelian inheritance
• understand principles of non-traditional inheritance

• recognize the clinical manifestations of common chromosomal disorders
• understand and follow the processing of a karyotype
• arrange and interpret a karyotype
• prepare his/her own karyotype (optional)

• understand the laboratory approach to the diagnosis of inborn errors of metabolism
• understand the principles of mitochondrial disease

• understand the process of molecular analyses for genetic disease
• understand and follow the processing of fragile X analysis

You will actively participate in teaching conferences and rounds and will present the historical and clinical findings of inpatient consultations at weekly genetic rounds. Discussion should be scholarly and include contemporary genetic and medical issues related to disorder.

One-month elective rotation available to any senior resident.

• mostly urban with a large racial and ethnic diversity