Frédérique Tihy , Ph.D.
    Frédérique Tihy
    Research Axis
    Brain and Child Development Axis
    CHUSJ - Centre de Recherche

    514 345-4931 #4727

    514 345-4766


    • Co-Director, Prenatal Cytogenetics Laboratory, CHU Sainte-Justine.
    • Assistant Clinical Professor, University of Montreal.
    • CCMG Training Program Director.


    • Certification in Cytogenetics, Canadian College of Medical Geneticists (CCMG), 2000.
    • Doctorate in Cytogenetics, University Paris XI, 1995.

    Research Interests

    I mainly conduct clinical research studies. When supervising cytogenetic analyses in prenatal diagnosis cases, I am regularly faced with problematic cases and rare chromosomal syndromes. A comprehensive study and the publication of the most interesting cases make it possible to bring additional knowledge of chromosomal syndromes to the scientific and medical community. The medical literature on chromosomal syndromes is of particular importance in prenatal diagnosis for prognosis evaluation.

    The large number of amniocenteses analyzed in our laboratory also allows us to carry out more statistical analyses on the amniocentesis indications and abnormalities found. We, for example, gathered and characterized a consequent number of chromosome markers. Moreover, the study of 49 fetuses with malformations analyzed by subtelomere FISH showed the analysis relevance for this cohort.

    A recently developed microarray-based CGH method will also provide new data on genetic abnormalities associated with mental retardation and malformations.


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