Urvashi Surti, PhD
Associate Professor of Pathology

Dr. Surti is a member of the Division of Gynecologic Pathology.

Office Location:
Rm. 1233
Magee-Womens Hospital
300 Halket Street
Pittsburgh, PA 15213
Contact Information:
Office Telephone: 412-641-4267
Fax: 412-641-1675
E-Mail: usurti@mail.magee.edu


  • MS - Carnegie Mellon University, 1969
  • PhD - University of Pittsburgh, 1977

Clinical Expertise

I direct the Pittsburgh Cytogenetics Laboratory that was established in July 1999 to provide a comprehensive general cytogenetics service to Pittsburgh and the surrounding areas. A wide variety of tests are offered on metaphase chromosomes derived from peripheral blood lymphocytes, bone marrow cells, skin and placental fibroblasts, solid tumors and amniocytes. The laboratory offers high-resolution G-band chromosome analyses and a comprehensive molecular cytogenetics service involving fluorescence in situ hybridization (FISH) for microdeletion syndromes (Prader-Willi/Angelman, Miller-Dieker, Williams, DiGeorge, Smith, Magenis, Cri-du-Chat, Wolf Hirschhorn, Kallman and Retinoblastoma). In addition, interphase FISH analysis is offered for rapid diagnosis of trisomies 13, 18, 21 and numerical sex chromosome abnormalities. Interphase FISH for several other probes including gene amplification of Her-2/neu in breast cancer is available using archived paraffin sections. The laboratory also offers high resolution ArrayCGH+ SNP analysis and currently performs >150 cases of microarrays per month. The laboratory operates in close collaboration with the Clinical Genetics Unit (MWH and CHP) and the Department of Pathology at MWH, and Hematopathology UPMC. The laboratory includes approximately 30 technologists, senior technologists, lab supervisors and a lab manager. In addition, there is one post-doctoral fellow and three faculty members.

Research Interests

Research interest includes genetics of gynecological tumors and delineation of cytogenetic abnormalities in abnormal concpetions using molecular cytogenetic techniques including microarray analysis and in situ hybridization. Current projects include:
  • Genetics of trophoblastic disease including moler pregnancies and choriocarcinoma
  • Genetics of male and female germ cell tumors
  • Genetics of uterine leiomyomas and leiomyosarcomas
  • Effect of Genomic Imprinting in human uniparentaldiploidy and disomies


  • American Board of Medical Genetics - Clinical Cytogenetics, 1987-present
  • State of Pennsylvania License - Director Clinical Cytogenetics Laboratories, 1987-present


Molecular Cytogenetics

Awards and Honors

  • First in Class-Secondary School certificate exam, 1963
  • National Merit Scholar, University of Bombay, India, 1964-1967
  • NIH - New Investigator Award, 1983-1986

Selected Publications

View Dr. Surti's publications on PubMed

  1. Gradowski JF, Jaffe ES, Warnke RA, Pittaluga S, Surti U, Gole LA, Swerdlow SH. Follicular Lmphomas with Plasmacytic Differentiation Include Two Subtypes. Mod Pathol 23(1):71-9, 2010.
  2. Dufresne SD, Felgar RE, Sargent RL, Surti U, Gollin SM, McPhail ED, Cook JR, Swerdlow SH. Defining the Borders of Splenic Marginal Zone Lymphoma: A Multiparameter Study. Hum Pathol 41(4):540-551, 2010.
  3. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning BL, Dickel DE, Ballif B, Platky K, Farber D, Gowans GC, Wetherbee J, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore J, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald McGinn D, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend K, Fichera M, Romano C, Gecz J, deLisi L, Sebat J, King MC, Shaffer LG, Eichler EE. A Recurrent 16p12.1 Microdeletion Suggests a Two-Hit Model For Severe Developmental Delay. Nature Genetics 42(3):203-9, 2010.
  4. Hoffner L, Parks TW, Swerdlow S, Carson JC, Surti U. Simultaneous Detection of Imprinted Gene Expression (p57KIP2) and Molecular Cytogenetics (FICTION) in the Evaluation of Molar Pregnancies. J Reprod Med, 55(5-6):219-28,2010.
  5. Teague B, Waterman MS, Gioldstein S, Potamousis K, Zhou S, Reslewic S, Sarkar D, Valouev A, Churas C, Kidd JM, Kohn S, Runnheim R, Lamers C, Forrest D, Newton MA, Eichler EE, Kent-First M, Surti U, Livny M, Schwartz DC. High-Resolution Human Genome Structure by Single-Molecule Analysis. Proc Natl Acad Sci, USA, 15;107(24):10848-53, 2010.
  6. Madan S, Madan-Khetarpal S, Park SC, Surti U, Bailey AL, McConnell J, Tadros SS. Left Ventricular Non-Compaction on MRI in a Patient with 22q11.2 Distal Deletion. Am J Med Genet A,152A(5):1295-9, 2010.
  7. Madan S, Madan-Khetarpal S, Park SC, Surti U, Bailey AL, McConnell J, Tadros SS. Response to Drs. Stöllberger and Finsterer “Noncompaction is Already Known in DiGeorge Anomaly from 22q11.2 Deletion Syndrome. Am J Med Genet A, 155A(3): 664-5, 2011.
  8. Moreno-De-Luca D; SGene Consortium, Mulle JG: Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ; GeneSTAR, Myers SM, Adam MP, Pakula AT, Eisenhauser NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackely T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia. AM J Med Genet. 12;87(5):618-30,2010.
  9. Slim R, Ao A, Surti U, Zhang L, Hoffner L, Arseneau J, Cheung A, Chebaro W, Wischmeijer A. Recurrent Triploid and Dispermic Conceptions in Patients with NLRP7 Mutations. Placenta, 2011 Mar 14. (Epub ahead of print).
  10. Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, Surti U. Prenatal Diagnosis of Trisomy 6 Rescue Resulting in Paternal UPD6 with Novel Placental Findings. Am J Med Gen, A155(8);1996-2002, 2011.
  11. Ochalski ME, Engle N, Wakim A, Ravnan BJ, Rajkovic A, Surti U. Complex X Chromosome Rearrangement Delineated by Array CGH in a Woman with Primary Ovarian Insufficiency. Fertility and Sterility, 95(7):2433e9-15, 2011.
  12. Messaed C, Chebaro W, Roberto RB, Rittore C, Cheung A, Arseneau J, Schneider A, Chen MF, Bernishke K, Surti U, Hoffner L, Sauthier P, Buckett W, Qian J, Lau NM, Bagga R, Engert JC, Coullin P, Touitou I, Slim R; H M Collaborative Group. NLRP7 in the Spectrum of Reproductive Wastage: Rare Non-Synonymous Variants Confer Genetic Susceptibility to Recurrent Reproductive Wastage. J Med Genet, Aug;48(8):540-8, 2011, Epub 2011 Jun 9.
  13. Chu T, Handley D, Bunce K, Surti U, Hogge WA, Peters DG. Structural and Regulatory Characterization of the Placental Epigenome at its Maternal Interface. PLoS One, 2011, 23;6(2):e14723.
  14. Gibson SE, Swerdlow SH, Ferry JA, Surti U, Dal Cin P, Harris NL, Hasserjian RP. Reassessment of Small Lymphocytic Lymphoma in the Era of Monoclonal B-Cell Lymphocytosis. Haematologica, 2011 Aug; 96(8):1144-5, Epub 2011 May 5.
  15. Gibson SE, Swerdlow SH, Craig FE, Surti U, Cook JR, Nalesnik MA, Lowe C, Wood KM, Bacon CM. EBV-Positive Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue in the Post-Transplant Setting: A Distinct Type of Post-Transplant Lymphoproliferative Disorder. AM J Surg Pathol, 2011 Jun; 35(6):807-15.
  16. Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. High-Resolution Array CGH Defines Critical Regions and Candidate Genes for Microcephaly, Abnormalities of the Corpus Callosum, and Seizure Phenotypes in Patients with Microdeletions of 1q43q44. Hum Genet 2011Jul 29, 131(1):145-36, 2012.
  17. Hu J, Madan-Khetarpal S, Serrano Russi AH, Kochmar S, DeWard SJ, Sathanoori M, and Surti U. Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features. Genetics Research International 2011, Article ID 185271, 1-7.
  18. Liao J, Deward SJ, Madan-Khetarpal S, Surti U, Hu J. A Small Homozygous Microdeletion of 15q13.3 Including the CHRNA7 Gene in a Girl with a Spectrum of Severe Neurodevelopmental Features. AM J Med Genet A 2011 Nov; 155(11):2795-800. doi:10.1002/ajmg.a.34237. Epub 2011 Oct 11.
  19. Craig FE, Monaghan SA, Surti U, Swerdlow SH. ZAP-70 and Bcl-2 Expression in B Lymphoblastic Leukemia Cells and Hematogones. Cytometry B Clin Cytom 2011 Aug 30. doi: 10.1002/cyto.b.20623 (Epub ahead of print).
  20. Peters D, Chu T, Yatsenko SA, Hendrix N, Hogge WA, Surti U, Bunce K, Dunkel M, Shaw P, Rajkovic A. Non-invasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome. N Engl J Med 2011 Nov 10;365(19):1847-8.
  21. Hendrix NW, Clemens M, Canavan TP, Surti U, Rajkovic A. Prenatally Diagnosed 17q12 Microdeletion Syndrome with a Novel Association with Congenital Diaphragmatic Hernia. Fetal Diagnosis Therapy, published online first Dec 14, 2011.
  22. Hermetz KE, Surti U, Cody JD, Rudd MK. A Recurrent Translocation is Mediated by Homologous Recombination Between HERV-H Elements. Molecular Cytogenetics, 5(1):6, Jan 2012.
  23. Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader P, Rosenbaum K, Vallee S, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S,. McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Caignec CL, Glew GM, Opheim KE, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG. Haploinsufficiency of SOX5 at 12p12.1 is Associated with Developmental Delays with Prominent Language Delay, Behavior Problems, and Mild Dysmorphic Features. Hum Mutat 2012, Jan 30, doi: 10.1002/humu.22037 (Epub ahead of print).
  24. Thorson HL, Surti U, Sathanoori M, Kochmar SJ, Torchia B, Rajkovic A. Prenatal Diagnosis of 2q32 Deletion Syndrome Characterized by Multiple Segmental Deletions and Complex Chromosomal Rearrangement Involving Chromosomes 2, 5 and 7. Fetal Diagn Ther 2011, doi: 10.1159/000335650 (in press).
  25. Monaghan SA, Surti U, Doty K, Craig FE. Altered Neutrophil Maturation Patterns that Limit Identification of Myelodysplastic Dyndrome. Cytometry B Clin Cytom (in press).
  26. Bunce K, Chu T, Surti U, Hogge WA, Peters DG. Discovery of Epigenetic Biomarkers for the Non-Invasive Diagnosis of Fetal Disease. Prenatal Diagnosis 2012, 32, 1-9, doi: 10.1002/pd.3853 (in press).
  27. McGuire MM, Yatsenko A, Hoffner L, Jones M, Surti U, Rajkovic A. Whole Exome Sequencing in a Random Sample of North American Women with Leiomyomas Identifies MED12 Mutations in Majority of Uterine Leiomyomas. PLos One (in press).