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Cytogenetic analysis is an important tool to diagnose individuals with developmental delay with or without dysmorphic features. My clinical research focuses on cytogenetics, including classical techniques, SNP array and fluorescence in situ hybridization, to identify new microdeletion and microduplication syndromes. Once detected in several individuals we can delineate the phenotypic spectrum associated with the chromosome abnormality. The use of microarray allows a correlation at the molecular level where candidate genes associated with the phenotype can be recognized. The direct application of this research is increased number of clinical diagnosis achieved and availability of better prognostic information to individuals and families carrying these genetic syndromes.
- Preceptor Postdoctoral Clinical Genetics Training Program
- Preceptor Molecular Pathology Training Program
Batista DAS, Hawkins A, Murphy KM, Griffin CA. BCR/ABL rearrangement in two cases of Philadelphia chromosome negative chronic myeloid leukemia: deletion on the derivative chromosome 9 may or not be present. Cancer Genet Cytogenet 2005; 163: 164-167.
Batista DAS, Vonderheid EC, Hawkins A, Morsberger L, Long P, Murphy KM, Griffin CA. Multicolor fluorescence in situ hybridization (SKY) in mycosis fungoides and Sézary syndrome Genes Chromosomes. Cancer 2006; 45: 383-391.
Taube JM, Griffin CA, Yonescu R,Morsberger L, Argani P,Askin FB, Batista DAS. Pleuropulmonary blastoma: Cytogenetic and spectral karyotype analysis. Pediatr Dev Pathol 2006; 9(6): 453-461.
Lisi EC, Hamosh A, Doheny KF, Squibb E, Jackson B, Galczynski R, Thomas GH, Batista DA. 3q29 Interstitial Microduplication: A New Syndrome in a Three-Generation Family. Am J Med Genet A. 2008 Mar 1;146A(5):601-9.
Georgy M, Yonescu R, Griffin CA, Batista DAS. Acute mixed lineage leukemia and a translocation 6;14 in two adults. Cancer Genet Cytogenet 2008; 185(1): 28-31
Li F, Lisi EC, Wohler ES, Hamosh A, Batista DAS. 3q29 Interstitial Microdeletion Syndrome: an inherited case associated with cardiac defect and normal cognition. Eur J Med Genet 2009;52(5):349-352
Denise Batista, PhD
Director, Cytogenetics and Microarray Laboratory
Kennedy Krieger Institute
Department of Pathology
Johns Hopkins University