Academic Rank:
Clinical Professor, UBC
Clinical Cytogeneticist, BCCH
Short Bio:

Dr. Patrice Eydoux is the Director of the Cytogenetics laboratory at Children’s and Women’s Health Center of British Columbia and a Clinical Professor at the University of British Columbia. He worked in the area of Cytogenetics at Université Paris VI in France and at McGill University in Quebec. After collaborating with Dr. Friedman and Dr. Marra on the study of small deletions and duplications causing intellectual disabilities and malformations in children, he coordinated the implementation of Chromosome Microarray Analysis (CMA) at BC Children’s Hospital. His current interests are development of CMA in constitutional diseases and cancer, and biological follow-up of duplications and deletions detected in children.

Academic background

  • Fellow of the Canadian College of Medical Genetics. 1996
  • MSc, Universite Paris V, Human Biology. 1977
  • MD, Universite Paris V. 1975
  • MSc, Universite Paris VI, Genetics. 1973
  • CPEBH, Universite Paris VI. 1969
  • BA, Universite Paris VI. 1968


  • Eydoux P, Simon-Bouy B. Diagnostic prenatal precoce: interet et limites du caryotype a partir des villosites choriales. Medecine Foetale, 45:12-16, 2001.
  • Eighezal H, Le Guyader G, Radford-Weiss I, Perot C, Van Den Akker J, Eydoux P, Vekemans M, Romana SP. Reassessment of childhood B-lineag lymphoblastic leukemia karyotypes using spectral analysis. Genes Chromsomes Cancer 30(4):383-92, 2001.
  • Wang JC, Mes-Masson AM, Tonin PN, Provencher D, Eydoux P. Trisomy of Chromosome 10 in Two Cases of Ovarian Carcinoma. Cancer Genet Cytogenet 118(1):65-68, 2000.
  • Collins KA, Eydoux P, Duncan AM, Ortenberg J, Silver K, Der Kaloustian VM. Phenotypic manifestation in a child with 46, der(X)t(X;1)(q24;q31.1). Am J Med Genet 91(5):345-347, 2000.
  • Azancot A, Eydoux P, Vuillard E, Cusin V, Baumann C, Blot P. Clinical spectrum of prenatal tetralogy of Fallot. Arch Mal Coeur Vaiss 93(5):587-93, 2000.

Research Interest

  • Development
  • Diagnostics
  • Genetics
  • Genomics

My area of research is related to my hospital and teaching interests: Cytogenetic diagnosis is a difficult area. The techniques are only partly automated, and must be standardized very efficiently to yield constant and reliable results. This has been one of my endeavor in the different laboratories which I had in charge. A diagnostic laboratory allows for new development in clinical research, for example the delineation of chromosomal abnormalities in relation with ultrasound abnormalities, or the determination of the pros and cons of very early amniocentesis (CEMAT trial).As a cytogeneticist, I am interested in the delineation of syndromes. Chromosomal abnormalities are a very powerful means of identifying regions/ genes involved in malformations and mental retardation, and indeed have been instrumental in mapping, cloning and sequencing these genes. At McGill University, we were able to develop a structure useful in FISH gene mapping, and to establish comparative mouse/ human gene locations. This is important per se in the era of the genome project, but also have important consequences for the understanding of diseases. For example, the location of the NaPi genes to an autosome allowed us to rule out an X-linked form of the disease in Human.A systematic approach of chromosomal abnormalities, at the microscopic or infra-microscopic level, is thus a powerful approach to better understand genetic diseases resulting from genomic imbalances. The first step is to identify chromosomal abnormalities, through conventional and/or molecular cytogenetics; the second step is to precisely delineate the region of segmental aneusomy, using FISH or molecular techniques; and finally, the last step is to understand the abnormal expression of genes resulting from genomic imbalance.Both chromosomal diseases diagnosis and research includes a permanent technological update. Research and development funding allowed us to develop an original, simplified and reliable technique for FISH, and to set up new techniques such as PRINS (Primed in situ hybridization), MultiFISH and telomere analysis, and to set up FISH with tailored probes, an important step for the study of chromosomal imbalances.As well, one of my area of interest is human development. Using cell culture of embryonic kidney, we were able to identify antigens with a specificity to different renal structures. In the near future, it is now feasible to combine a cytogenetics and developmental approach. It is necessary to identify new regions of genome imbalance, using recent technologies such as CGH arrays. Next, these new technologies allow to study the expression of genes within the segmental aneusomy regions using expression chips, a technology very well adapted to multigenic expression study.

Methodological Expertise:

  • Array Genomics Hybridization
  • Cytogenetics
  • FISH
  • Genetics
  • Molecular
  • Oncology