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.
Medical GeneticsAmerican Board of Medical GeneticsABMG
- 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.
- Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.
- Deletion of 16q24.1 supports a role for the ATP2C2 gene in specific language
- Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism.
- Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.
- Interstitial duplication 19p.
- Molecular characterization of glycophorin A transcripts in human erythroid cells using RT-PCR, allele-specific restriction, and sequencing.
- Pallister-Killian and Fryns syndromes.
- Analysis of somatic cell mutations at the glycophorin A locus in atomic bomb survivors: a comparative study of assay methods.
- Trisomy 22 confirmed by fluorescent in situ hybridization.
- New variants of the human and rat nuclear hormone receptor, TR4: expression and chromosomal localization of the human gene.
- Localization of a gene for a glutamate binding subunit of a NMDA receptor (GRINA) to 8q24.
- Assignment of the human nuclear hormone receptor, NUC1 (PPARD), to chromosome 6p21.1-p21.2.
- Assignment of DMP1 to human chromosome 4 band q21 by in situ hybridization.
- Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21.
- Assignment of dentin sialophosphoprotein (DSPP) to the critical DGI2 locus on human chromosome 4 band q21.3 by in situ hybridization.
- Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
- Cloning, chromosomal localization and promoter analysis of the human transcription factor YY1.
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