Paulie Papavassiliou, PhD, who recently earned her Doctorate of Philosophy in Human Genetics, presented this week's grand rounds lecture for faculty, residents and staff. Dr. Colleen Jackson-Cook, Professor of Pathology, served as her mentor for her doctoral studies.

Dr. Papavassiliou's topic, "Karyotype-Phenotype Correlations for Mosaic Down Syndrome," is highlighted in the following educational objectives:

• Appreciate the phenotypic variability that exists in individuals with mosaic Down syndrome.
• Identify potential factors that contribute to the variability in clinical outcome amongst individuals with mosaic Down syndrome.
• Understand how mosaicism for trisomy 21 develops.
• Compare and contrast the origins of trisomy 21 mosaicism with that of full trisomy 21.
• Discuss how studies of telomere length may provide insight about mechanisms involved in premature aging in people with Down syndrome.

view abstract

For more information, visit our Cytogenetics Laboratory web page or contact. Dr. Papavassiliou.