Dr. Barbara R Dupont PH.D., FACMG
Geneticist | Clinical Cytogenetic
125 Gregor Mendel Cir Greenwood SC, 29646About
Dr. Barbara Dupont practices Genetic Medicine in Greenwood, SC. As a geneticist, Dr. Dupont performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients? with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Dupont carries out studies, tests, and counsels patients with genetic diseases.
Board Certification
Medical GeneticsAmerican Board of Medical GeneticsABMG
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Characterization of a human import component of the mitochondrial outer membrane, TOMM70A.
- Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.
- Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies.
- Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism.
- Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.
- Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.
- Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
- 47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal.
- Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.
- Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
- Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
- Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).
- 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.
- Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.
- Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion.
Dr. Barbara R Dupont PH.D., FACMG's Practice location
Practice At 125 Gregor Mendel Cir
125 Gregor Mendel Cir -Greenwood, SC 29646Get Direction
Dr. Barbara R Dupont PH.D., FACMG's reviews
Write ReviewRecommended Articles
![]()
Ehlers-Danlos Syndrome: Symptoms, Causes, Diagnosis, and TreatmentWhat is Ehlers-Danlos syndrome (EDS)?Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the body’s connective tissues, which are proteins that support the blood vessels, skin, bones, and other organs in the body. Connective tissues also provide elasticity and strength to the...
![]()
What Is Pituitary Dwarfism?IntroductionPituitary dwarfism, also called growth hormone deficiency, is a medical condition wherein the pituitary gland does not produce sufficient amounts of growth hormone. This deficiency often results in children’s slow growth or short stature.An adult with pituitary dwarfism has an average...
![]()
What Causes Albinism?What is albinism?Albinism is a group of genetic disorders that cause little or no production of the natural pigment called melanin. The color of your skin, hair, and eyes depend on the type and amount of melanin produced by your body. Most individuals with albinism have sun sensitivity, which makes...
![]()
Is Pancreatic Cancer Genetic?Is Pancreatic Cancer Genetic?Cancer is caused by a change in your genetic sequence. Genes are responsible for designing your body. Any alteration at that level will alter your body patterns.Cancer is an uncontrolled production of abnormal cells. Usually new cells are formed when your body needs...
![]()
What is Neurofibromatosis?Neurofibromatosis is a genetic disorder that affects the development of nerve cells and tissues in the body, leading to the formation of tumors in different parts of the nervous system. These tumors, also known as neurofibromas, may develop in the brain, spinal cord, along the nerves, or under the...
- Is My Child More Likely to Develop Autism if a Blood Relative Has Autism?
Autism characterized by impaired social interactions reduced verbal and non-verbal communication and stereotyped behavior and activities. These symptoms appear in early childhood and impair or limit everyday functioning.Autism and geneticsResearchers believe that both environment and genetics play a...
Nearby Providers
![]()
Luigi Boccuto113 Gregor Mendel Cir Greenwood South Carolina 29646![]()
Dr. Elliot Seth Stolerman M.D.101 Gregor Mendel Cir Greenwood SC 29646![]()
Dr. Roger E Stevenson MD101 Gregor Mendel Cir Greenwood SC 29646![]()
Dr. Steven A Skinner MD101 Gregor Mendel Cir Greenwood SC 29646![]()
Dr. Swetha Krishnamurthi MD101 GREGOR MENDEL CIR GREENWOOD SC 29646![]()
Mr. Timothy Carl Wood PHD, FACMG125 Gregor Mendel Cir Greenwood SC 29646
Nearest Hospitals
ABBEVILLE AREA MEDICAL CENTERl
420 THOMSON CIRCLE ABBEVILLE SC 29620