Marie T. McDonald, MD

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Services

• Neurological Disorders

Department / Division:
Pediatrics / Medical Genetics

Address:
DUMC 3528
Durham, NC 27710

Appointment Telephone:
919-684-2036

Office Telephone:
919-681-1982

Fax Telephone:
919-684-8944

• MB BCh, BAO, Trinity College, Ireland, 1985

• Internal Medicine, St. James and Federated Dublin Voluntary Hospitals, Ireland, 1986-89
• Pediatrics, The Children's and Rotunda Hospitals, Ireland, 1989-91
• Pediatric Genetics, University of Michigan, 1991-94

Clinical Interests:
Clinical genetics, dysmorphology, birth defects, metabolic disorders, cancer genetics, Fabry disease, and lysosomal storage disorders

Research Interests:
My current research interests are in the field of Clinical Genetics, Dysmorphology,  and Fabry disease.

Representative Publications:
McDonald MT, Fletjer W, Sheldon S, Putzi M, Gorski J. XY Sex Reversal amd Gonadal Dysgenesis due to 9p24 monosomy. American Journal of Medical Genetics 1997;73:321-326. (1997)

Gorski JL, Bialecki M, McDonald MT, Massa H, Trask, Burright EN. Cosmids map two incontinentia pigmenti type 1 (Ip1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig. Genomics 1996;35:338-345. (1996)

Fletjer W, Bennett-Baker P, Ghaziuddin M, McDonald M, Shelson S, Gorski J. Cytogenetic and molecular analysis of inv dup (15)chromosomal markers observed in two patients with autistic disorder and mental retardation. American Journal of Medical Gneetics 1996;61:182-187. (1996)

McDonald MT, Papenberg, KA Ghosh S, Glatfelter AA, Biesecker BB, Helbold EA, Markel DS Zolotor A, McKinnon WC, Vanderstoep Jl, Jackson CE, Innanuzzi M, Collins FS, Boehnke M, Porteous ME, Guttmacher AE, Marchyk, DA. A disease locus for Hereditary Hemorrhagic Telangiectasia maps to 9q33-34. Nature Genetics 1994 Feb;6(2):197-204. (1994)

McDonald M, Gorski J. Nager Acrofacial Dysostosis. J Medical Gnetics 1993;30:779-782 (1993)