Human gene mapping, numerical and structural aberrations of chromosomes--their structure, function and clinical correlates.

Prader-Willi/Angelman, Velocardiofacial, and Smith-Magenis deletion syndromes, their molecularorigins.

Problems in sex determination.

Chromosome abnormalities in malignancy; origin of germ cell tumors.

Melatonin Levels in Sleep-disordered Smith-Magenis Syndrome.

Immunodeficiency in ICF Syndrome.

Specific conditions currently under investigation include the Prader-Willi and Angelman syndromes (due to 15q deletion/uniparentaldisomy) and Smith-Magenis 17p deletion syndromes.  Clinical investigation into the origin and identity of small extra chromosomes or extra material attached to known chromosomes not identifiable by routine laboratory techniques.  Tools used in addition to high resolution cytogenetics include fluorescent in situ hybridization, special staining techniques, and Southern blotting for uniparental disomy.  An endeavor to identify and analyze chromosome abnormalities in leukemias and solid tumors, is performed as part of large collaborative studies by the Southwest Oncology Group (SWOG) and the Children’s Cancer Group (CCG).  Studies include correlations of biological findings, both cytological and molecular, with cancer treatment outcomes.  Identification of the complex chromosome abnormalities found in many malignancies also uses the tools needed for gene localization.

Ann CM Smith, R. Ellen Magenis, Sarah H Elsea. Overview of Smith-Magenis Syndrome. The Journal of the Association of Genetic Technologists 31 (4)2005.

Ann CM Smith, MA, DSc (hon), CGC, Judith E Allanson, MD, Sarah H. Elsea, PhD, FACMG, Brenda M. Finucane, MS, CGC, Barbara Haas-Givler, Med, Andrea Gropman, MD, FAAP, FACMG, Kyle P Johnson, MD, James R Lupski, MD, PhD, FAAP, FACMG, FAAAS, Ellen Magenis, MD, FAAP, FACMG, Lorraine Potocki, MD, FACMG, Beth Solomon, MS. Smith-Magenis Syndrome. [del(17)(p11.2)]. Gene Reviews. 2006, www.genetests.org.  (In press).

Charles A Williams, Arthur L Beaudet, Jill Clayton-Smith, Joan H Knoll, Martin Kyllerman, Laura A. Laan, R.Ellen Magenis, Ann Moncla, Albert A. Schinzel, Jane A Summers, Joseph Wagstaff. Angelman Syndrome 2005:Updated Consensus of Diagnostic Criteria. American Journal of Medical Genetics Part A 140A (5); 413-418. 2006.

Cristina A Smith, R Ellen Magenis, Eleanor Himoe, Cheree Smith, Atiya Mansoor. Chondromyxoid Fibroma of the Nasal Cavity with an Interstitial Insertion Between Chromosomes 6 and 19. Cancer Genetics and Cytogenetics 2006 (In press).

R Ellen Magenis. Sexual Maldevelopment and Sex Reversal:  Chromosomal Causes. The Journal of the Association of Genetic Technologists. (In press).

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