DEBORAH ANNE DRISCOLL
Medical Practice in Haverford, PA
License number
Pennsylvania MD033001E
Category
Medicine
Type
Medical Physician and Surgeon
Address
Address
Haverford, PA 19041
Personal information
See more information about DEBORAH ANNE DRISCOLL at radaris.comName
Address
Phone
5254 Mcanulty Rd, Pittsburgh, PA 15236
7935 Woodbine Rd, Airville, PA 17302
139 Roosevelt Ave, Pittsburgh, PA 15214
1817 Jewel St, West Mifflin, PA 15122
207 Meadowview Dr, Latrobe, PA 15650
Professional information
Methods Of Detecting Genetic Deletions And Mutations Associated With Digeorge Syndrome, Velocardiofacial Syndrome, Charge Association, Conotruncal Cardiac Defect, And Cleft Palate And Probes Useful Therefore
US Patent:
6303294, Oct 16, 2001
Filed:
Jun 7, 1995
Appl. No.:
8/473319
Inventors:
Beverly S. Emanuel - Broomall PA
Marcia L. Budarf - Moylan PA
Deborah Driscoll - Haverford PA
Marcia L. Budarf - Moylan PA
Deborah Driscoll - Haverford PA
Assignee:
The Children's Hospital of Philadelphia - Philadelphia PA
The Trustees of the University of Pennsylvania - Philadelphia PA
The Trustees of the University of Pennsylvania - Philadelphia PA
International Classification:
C12Q 168, C07H 2102
US Classification:
435 6
Abstract:
There is provided by this invention methods of detecting genetic deletions, translocations, and mutations associated with at least one condition selected from the group consisting of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate in a human patient comprising the steps of providing a DNA containing test sample from said human patient; identifying whether there are less than two functional copies of the DiGeorge syndrome critical region loci, whereby said identification of less than two copies of the DiGeorge syndrome critical region loci is indicative of a likelihood that said person has at least one of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate. Probes and primers useful in the invention are also provided as are diagnostic kits.