Return to Faculty Listing
Shivanand Patil Ph.D
shivanand-patil
 uiowa eduProfessor of Pediatrics
Chromosome abnormalities are a leading cause of genetic disease. Cytogenetic studies are utilized to detect chromosomal rearrangements in individuals with congenital malformations and/or mental retardation, malignancies and other genetic disorders. Research efforts in our laboratory are engaged in investigating the mechanisms leading to chromosome abnormalities and in utilizing molecular cytogenetics methods for gene mapping. We are also investigating the use of chromosome-specific probes for interphase nuclei in leukemias and solid tumors. In collaboration with others, molecular characterizations of certain syndromes are being carried out in families with uncommon chromosomal rearrangements. Selected Publications
Patil, S.R. and Wyandt, H.E. Heteromorphisms in Clinical Populations. In Atlas of Human Chromosome Heteromorphism, (Edited by Drs. Wyandt and Yonk), p 47-63, Kluwer Academic Publishers, The Netherlands (2004). Trembath, D.G., Semina, E.V., Jones, D.H., Patil, S, Qian, Q., Amendt, B.A., Russo, A.F. and Murray, J.C.: Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Reiger syndrome. Birth Defects Research Part A: Clinical and Molecular Teratology 70: 82-91, 2004. Di Paola, J, Goldman, T, Qian, Q. Patil, S.R. and Schute, B.: Breakpoint of a balanced translocation (X;14)(q27.1;q32.33) in a girl with severe hemophilia B maps proximal to the factor IX gene. J.Thromb. Haemost. 2: 437-440, 2004. Klingelhutz, A.J., Qian, Q, Phillips, S, Gourtrone, F.A., Darbro, B.W. and Patil, S.R..: Amplification of chromosome 20q region is associated with expression of HPV-16 E7 in human airway and anogenital epithelial cells. Virology 340:237-244, 2005. Wassink, T., Losh, M., Piven, J., Sheffield, V.C., Ashley, E., Westin, E and Patil, S.R.: Systematic screening for subtelomeric anomalies in a clinical sample of autism. J. Autism & Develop. Disorders (in press). |
