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Deborah Anne Driscoll, M.D.

Deborah Anne Driscoll, M.D.

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Luigi Mastroianni, Jr. Professor of Obstetrics and Gynecology
Department: Obstetrics and Gynecology

Contact information
Department of Obstetrics and Gynecology
Hospital of the University of Pennsylvania
3400 Spruce Street
Philadelphia, PA 19104-4283
Office: 215662-7503
Fax: 215-662-7846
Education:
A.B.
Smith College (Major: Biology), 1977.
M.D.
New York University School of Medicine, 1983.
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Description of Research Expertise

DiGeorge syndrome, velocardiofacial syndrome, 22q11.2 deletion syndrome, genetic analyses of congenital heart disease, polycystic ovary syndrome

Description of Clinical Expertise

prenatal genetic diagnosis, genetic screening and counseling, adolescent and pediatric gynecology, polycystic ovary syndrome

Selected Publications

Driscoll, D.A. and Sullivan K.E.: DiGeorge Syndrome: A Chromosome 22q11.2 Deletion Syndrome. Primary Immunodeficiency Diseases, a Molecular and Genetic Approach, 2nd edition. Ochs, H.D., Smith, C.I.E., Puck, J. (eds.). Oxford University Press, In Press.

Lambrechts, D., Deviendt, K., Driscoll, D.A., Goldmuntz, E., Gewillig, M., Vlietinck, R., Collen, D., Carmeliet, P. : Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family-based association study. J. Med. Genet. In Press.

Sherman, S., Pletcher, B., Driscoll, D.A.: Fragile X syndrome: diagnostic and carrier testing. Genetics in Medicine In Press.

Driscoll, D.A.: Molecular and Genetic Aspects of DiGeorge/velocardiofacial syndrome. Congenital Heart Disease: Molecular Diagnosis In Press.

Merrill A., Rosenblum-Vos, L., Driscoll, D.A., Daley K., Treat K. : Prenatal diagnosis of Fanconi Anemia (group c) subsequent to abnormal sonographic findings. Pren Diag 25(1): 20-22, 2005.

Saitta, S.C., Harris, S.E., McDonald-McGinn, D.M., Emanuel, B.S., Tonnesen, M.K., Zackai, E.H., Seitz, S.C., Driscoll, D.A. : Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome. Am. J. Med. Genet. 124A: 313-317, 2004.

Saitta SC, Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK, Yersak JM, Chakraborty PK, Hacker AM, Zackai EH, Ashley T, Emanuel BS. : Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet 13(4), 417-28 2004.

Morgan MA, Driscoll DA, Mennuti MT, Schulkin J : Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis. Genetics in Medicine 6(5): 450-55, 2004.

Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti MT, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW : Cystic Fibrosis (CF) population carrier screening: 2004 revision of ACMG’s mutation panel. Genetics in Medicine 6(5): 387-91, 2004.

Seeber, B and Driscoll DA: Mini-review: Hereditary breast and ovarian cancer syndrome: should we test adolescents? J Ped Adol Gyn 17: 161-167, 2004.

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Last updated: 02/17/2014
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