Judy Chernos, PhD, Medical Genetics University of Calgary

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Dr. Judy E. Chernos

BSc (Toronto), PhD (Calgary), FCCMG.(Acting Head)

Associate Professor, Department of Medical Genetics, University of Calgary.

Director, Cytogenetics Laboratory, Calgary Health Region.

e-mail:

Research Interests

Elucidating the nature of unique constitutional chromosome anomalies using traditional and newer molecular cytogenetic technologies such as fluorescence in situ hybridization (FISH) and array CGH.
Correlating clinical phenotypes with karyotypic anomalies (particularly apparently balanced rearrangements).
Teaching and evaluation of learning at the undergraduate, medical, graduate and post-doctoral levels.

I am currently involved in two projects which are funded by the Alberta Children’s Hospital Foundation:

Molecular cytogenetic characterization of apparently balanced chromosomal rearrangements in children with phenotypic abnormalities (principle investigator)
Characterization of a contiguous gene deletion syndrome associated with childhood-onset obesity and learning difficulties (co-investigator)

Although my laboratory is primarily diagnostic, the Cytogenetics Laboratory at ACH receives nearly 3000 specimens/year and provides a considerable reservoir of interesting potential subjects for study. Indications for suspected chromosomal abnormality include developmental delay, mental retardation (MR), congenital anomalies, abnormal growth, dysmorphism, delayed puberty, and recurrent miscarriages. Cytogenetic analysis by G-banding (karyotyping) is an important diagnostic tool however it is limited in diagnostic resolution by the size of the chromosome segments involved and the difficulty to characterize some chromosome alterations with indistinct banding patterns.

Clinically significant cytogenetic aberrations, below the resolution of conventional karyotyping, are important to identify as a specific diagnosis can be provided to the patient and family and the natural history of the condition anticipated. Employing new molecular cytogenetic methods for the identification of an underlying genetic anomaly will improve diagnosis and genetic counselling for specific patients and contribute to a general understanding of the correlation between phenotype and genotype.

I hope to collaborate with researchers interested in specific developmental problems or congenital anomalies in children, as well as researchers interested in causes of infertility.

Publications

Shetty S, Boycott KM, Gillan TL, Parboosingh JS, Bernier FP, Chernos JE. A de novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis. Clinical Dysmorphology 2007, 16:253-256.

Lauzon JL, Chernos JE, McLeod DR. Maternal duplication of chromosome 11p15 in a young girl with growth retardation and dysmorphic features. Clinical Dysmorphology (in press).

Wang J-C, Bowser K, Chernos JE. Shedding new light on false positive diagnosis of trisomy 21 by fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells: experiences from two Canadian cytogenetic laboratories. Prenatal Diagnosis 2007, 27:964-966.

Gillan TL, Davies C, Innes M, Miller J, Graham L, Chernos J, Bridge PJ and Parboosingh J. An Undiagnosed Cytogenetic Abnormality Results in the Misidentification of a Duchenne Muscular Dystrophy Carrier. American Journal of Medical Genetics, Part A. (accepted December 2007)

Meng G, Liu S, Krawetz R, Chan M, Chernos J, Rancourt DE. Long-Term Culture of Human Embryonic Stem Cells in Completely Animal-Free Conditions. (accepted December 2007)

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