Turner syndrome (TS) is a common chromosomal disorder caused by complete or partial absence of the second sex chromosome. Most individuals have short stature, specific neuropsychological features, and primary ovarian insufficiency. Other clinical features may include metabolic derangements (i.e., impaired glucose tolerance and diabetes), congenital heart disease, and renal malformations. Despite knowledge of the chromosomal etiology of TS, the genotype-phenotype mechanisms are poorly understood. My primary research interest is to isolate the genetic/epigenetic contributions to TS-associated phenotypes. One of our approaches to studying this in TS is in the context of a “second hit” hypothesis – whereby haploinsufficiency for Xchr genes sensitizes the TS genome, and increased but variable penetrance for TS- associated phenotypes may be a sign of interactions between the sensitized genome and modifier genes.

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