Deborah
 
Anne
 
Driscoll
M.D.
Email: 
ddriscoll@obgyn.upenn.edu
Address: 
Department of Obstetrics and Gynecology Hospital of the University of Pennsylvania 3400 Spruce Street
215662-7503
Affiliations
Expertise

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

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

Appointments
Assistant Professor of Genetics at University of Pennsylvania School of Medicine (1997 – 1998)
Luigi Mastroianni, Jr. Professor of Obstetrics and Gynecology at University of Pennsylvania School of Medicine (2008– present)
Professor of Obstetrics and Gynecology at University of Pennsylvania School of Medicine (2005 – 2008)
Professor of Genetics at University of Pennsylvania School of Medicine (2007– present)
Associate Professor of Obstetrics and Gynecology at University of Pennsylvania School of Medicine (1998 – 2005)
Professor of Pediatrics at University of Pennsylvania School of Medicine (2007– present)
Assistant Professor of Obstetrics and Gynecology at University of Pennsylvania School of Medicine (1989 – 1998)
Assistant Professor of Pediatrics at University of Pennsylvania School of Medicine (1993 – 1998)
Associate Professor of Pediatrics at University of Pennsylvania School of Medicine (1998 – 2007)
Associate Professor of Obstetrics and Gynecology in Genetics at University of Pennsylvania School of Medicine (1998 – 2007)
Education
M.D., New York University School of Medicine (1983)
A.B., Smith College (Major: Biology) (1977)
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. 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. Vol 25(1) . 2005:20-22.
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.. Vol 124A. 2004:313-317.
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. Vol 13(4) . 2004 417-28.
Morgan MA, Driscoll DA, Mennuti MT, Schulkin J. Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis. Genetics in Medicine. Vol 6(5) . 2004:450-55.
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. Vol 6(5) . 2004:387-91.
Seeber, B and Driscoll DA. Mini-review: Hereditary breast and ovarian cancer syndrome: should we test adolescents?. J Ped Adol Gyn. Vol 17. 2004:161-167.