Dorothy Warburton, PhD

Research: Dr. Dorothy Warburton is a cytogeneticist whose current primary interest is in the epidemiology of human chromosome abnormalities, particulalry as this relates to fetal loss. She has also been involved in gene discovery and gene mapping in humans and rodents. Currently work is focused on testing a hypothesis concerning the relationship between maternal age and trisomic conceptions, termed the "limited oocyte pool" hypothesis. Under this hypothesis, trisomy risk is related to the size of the remaining pool of oocytes, a variable correlated with biological aging. Age at menopause, ovarian follicle counts by ultrasound, X-chromosome aneuploidy and hormonal levels are all variables being analyzed in an epidemiological study conducted with colleague Jennie Kline in the Divison of Epidemiology. Further studies are planned to investigate highy skewed X-inactivation, a phenomenon linked to repetitive spontaneous abortion, as it relates to maternal aging and trisomy risk. Laboratory studies are also being carried out to investigate the early stages of human female meiosis by direct examination of fetal oocytes using FISH and immunochemical techniques.

Fellow participation:

• Analysis of trisomy recurrence risk: are there women at increased risk for trisomy in general, rather than for specific trisomies
• Studies of menopausal histories from women with spontaneous abortion of known karyotype
• Analysis of X-inactivation skewing in women with repetitive abortions, and abortions of known karyotype
• Microscopic analysis of human meiotic prophase in fetal oocytes: comparison of sites of recombination with genetic maps, and comparison of pairing timing and patterns among pairs of human chromosomes.

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