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

22q11.2 deletion syndrome, preterm birth

Description of Clinical Expertise

prenatal genetic diagnosis, genetic screening and counseling, obstetrical ultrasound, antenatal testing, amniocentesis, chorionic villus sampling

Selected Publications

Driscoll, D.A., Budarf, M.L., Emanuel, B.S.: A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am. J. Hum. Genet. 50: 924-933, 1992.

Driscoll, D.A., Spinner, N.B., Budarf, M.L., McDonald-McGinn, D.M., Zackai, E.H., Goldberg, R.B., Shprintzen, R.J., Saal, H.M., Zonana, J., Jones, M.C., Mascarello, J.T., Emanuel, B.S.: Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am. J. Med. Genet. 44: 261-268, 1992.

McLean, S.D., Saal, H.M., Spinner, N.B., Emanuel, B.S. and Driscoll, D.A.: Velo-cardio-facial syndrome: Intra-familial variability of the phenotype. Am. J. Dis. Child. 147: 1212-1216, 1993.

Junker A.K. and Driscoll, D.A.: Humoral Immunity in DiGeorge syndrome. J. of Peds 127: 231-237, 1995.

Driscoll, D.A. and Emanuel, B.S.: DiGeorge and velocardiofacial syndrome: the 22q11 deletion syndrome. Mental Retardation and Developmental Disabilities Research Reviews 2: 130-138, 1996.

Goldmuntz E., Clark, B.J., Mitchell, L.E., Jawad, A.F., Reed, L., McDonald-McGinn, DM., Cuneo, B.F., Chien, P., Feuer, J., Zackai, E.H., Emanuel, B.S., Driscoll, D.A.: Frequency of 22q11 deletions in patients with conotruncal defects. J. Am. College of Cardiology 32: 492-498, 1998.

Driscoll DA, Morgan MA, Schulkin J: Screening for Down syndrome: changing practice of obstetricians. Am J Obstet Gynecol 200(459), 2009.

Wapner RJ, Driscoll DA, Simpson JL: Integration of microarray technology into prenatal diagnosis: counseling issues generated during the NICHD clinical trial. Prenat Diagn 32: 396-400, 2012.

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Last updated: 07/01/2019
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