BIOGRAPHICAL SKETCH

NAME

Kavita S. Reddy, Ph.D.

POSITION TITLE

RETIRED (JUNE 2022)

** ******* **** ****

Lincoln MA 01773

Cell # 312-***-****

e-mail: ad0xie@r.postjobfree.com

EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing, and include postdoctoral training.)

INSTITUTION AND LOCATION

DEGREE

(if applicable)

YEAR(s)

FIELD OF STUDY

Department of Zoology,

Bangalore University, India

M.Sc.

1974

ZOOLOGY

Bangalore University, India

Ph.D.

1984

CYTOGENETICS

MRC Radiobiology Unit, Harwell Didcot, United Kingdom

Postdoc

1985 – 1986

CYTOGENETICS

Diplomat of the American Board of Medical Genetics, USA

1993 -2022

CLINICAL CYTOGENETICS

Diplomat of the American Board of Medical Genetics

1996 -2022

CLINICAL MOLECULAR GENETICS

RESEARCH AND PROFESSIONAL EXPERIENCE:

December 2017-June 2022: Saint Francis Hospital Genetic Center Director of Genetics laboratory overseeing molecular and cytogenetic testing and case sign out of NGS 22 gene pan cancer panel, Hereditary cancer 98 illumina panel, TSO 500 pan cancer profile, microarray cytogenomics, single or multiple related genes molecular test, cytogenetic and FISH tests.

July 2016-June 2017 Director of Shodair Children’s Hospital Genetics laboratory overseeing molecular and cytogenetic operations, including compliance, budget, employee schedule, testing and case sign out of NGS, microarray, molecular, cytogenetic and FISH tests.

June 2014 –Apr 2016: Director of Medical Genetics, Institute of Bioinformatics, Bangalore, Karnataka, India. Involved with bioinformaticians to set up an automated analysis pipeline to study inherited pituitary adenomas, Inherited immune disorders, X-linked intellectual disability and hearing loss. Experienced in creating a panel, An analysis pipeline and guiding bioinformaticians to automate the creation of reports and delivery to clinicians. October 2012–March 2014: Head of Clinical Operations, Strand Life Sciences, Bangalore, Karnataka, India Set up oncology panel, cardiology panel, ophthalmology panel etc, helped edit the pipeline for analysis, Analysis of variant calling files. Create a report following CAP and ACMGG guidelines

July 2008– October 2012: Laboratory Director, Kaiser Permanente, SoCal, USA Signed out cytogenetic, FISH and molecular tests. Introduced Agilent aCGH.

February 2008– July 2008: Laboratory Director, Combimatrix Inc, USA. Signed aCGH reports December 2005– February 2008: Senior Director, Genzyme Genetics, Manhattan, USA. Cytogenetic and FISH sign out of oncology, prenatal and postnatal tests results

2004- 2005: Consultant, Genzyme Genetics, City of Hope Cancer Center and US labs, USA 2002- 2003: Director, Genzyme Genetics, USA

2000 – 2002: Scientific Director, Cytogenetics and Molecular Genetics, Quest Diagnostics. 1997 -2000: Associate Director, Cytogenetics and Molecular Genetics, Quest Diagnostics.

1994-2000: Associate Director, Cytogenetics Corning Nichols Institute, San Juan Capistrano, CA, USA. 1991-1992: Assistant Director (Part-time), Cytogenetics, Nichols Institute, San Juan Capistrano, CA, USA. 1991-1993: Research Associate (Part-time), University of California, Irvine, USA

1989-1991: Research Associate, Harbor UCLA, Torrance, CA, USA:

1987-1989: Research Instructor, Johns Hopkins Hospital, Baltimore, USA.

1986-1987: Clinical Cytogeneticist, Southwest Regional Cytogenetics Center, Southmead Hospital, Bristol,

U.K.1984-1985: Research Officer, Indian Council of Medical Research Program, Genetic co.

HONORS AND AWARDS:

1998: Achievement of Excellence, Quest Diagnostics at Nichols Institute, USA

1985: Welcome Trust fellowship from MRC Radiobiology Unit, Harwell, U.K.

1982: Young Scientist Award of the Indian Society of Human Genetics, India

CERTIFICATION

Board certified in clinical cytogenetics and clinical molecular genetics by the American board of Medical Genetics and Genomics

California State and New York State, license in Cytogenetics and Molecular Diagnostics/Tumor biomarkers RESEARCH PUBLICATIONS

1. Joseph T., Thomas, J. A., Murthy, D. K and Reddy, K. S. (1980). Alterations in the spematogenic pattern after L-dopa. Indian Journal of Medical Research. 71, 46-52.

2. Reddy, K. S., Thomas, I. M. and Narayanan, H. S. (1984). Partial deletion of the long arm of chromosome I I-The Jacobsen syndrome. Indian Journal of Pediatrics. 51, 359-362. 3. Reddy, K. S., 3. Reddy, K. S.,Thomas, I. M., and Narayanan, H. S. (1984). A case of nondisjunction of chromosome 21 (47,X,Yqs,+21) in an Indian family with Yqs. Annales de Genetique. 27, 194-196. 4. 4. Reddy, K. S. and Thomas, I. M. (1985). Cytogenetic investigations in 200 selected mentally retarded patients. Indian Journal of Medical Research. 82, 164-170.

5. Reddy, K. S. and Thomas, I. M. (1985). Significance of acquired non-random 7/14 translocations. American Journal of Medical Genetics. 22, 305-310.

6. Savage, J. R. K. and Reddy, K. S. (1987). On the localization of Mitomycin-C induced aberrations in normal human and Fanconi's anemia cells. Mutation Research. 178, 65- 71.

7. Reddy, K. S., Savage, J. R. K. and Papworth, D. G. (1988). Replication kinetics of the X chromosome in human fibroblasts and lymphocytes. Human Genetics. 79, 44-48. 8. Victor R., Joseph 8. Victor R., Joseph A. M., Reddy K. S. and Thomas I. M. (1988) Robertsonian translocation with reciprocal product in the father of a 46, XY t(21q;21q) boy. Indian J Pediatr. 55(5), 797-801.

9. Reddy, K. S., Blakemore, K. J., Stetten, G. and Carson, V. (1990). The significance of trisomy 7.mosaicism in chorionic villus cultures. Prenatal Diagnosis. 417-425.

10. Reddy, K. S., Petersen, M. B., Antonarakis, S. E. and Blakemore, K. J. (1991). The vanishing twin: An explanation for the discordance between chorionic villus karyotype and fetal phenotype. Prenatal Diagnosis. 11, 679-684.

11. Reddy, K. S. (1996).Variants of chromosome 9 with additional euchromatic bands: Two case reports. Am J Med Genet. 64, 536-538.

12. Reddy, K. S., Sulcova, V. and Siassi, B. (1996) Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45, XX/XY, der (4)(4;22) (pl6.3;ql1.2)mat,-22. J Med Genet. 33:852-855.

13. Reddy, K. S., Sulcova, V., Ho, C. K., Conner, E. D. and Khurana, A. (1997) A baby with mosaic 45, X/46,X,psu dic(Y)(pter->ql 1::ql 1.2->pter) karyotype with mixed gonadal dysgenesis was studied for the extent of mosaicism in the gonads. Am J Med Genet. 66, 441-666.

14. Reddy, K. S. and Sulcova, V. (1997). C-MYC amplification in a preleukemia patient with trisomy 4 and double minutes. Review of the unique coexistence of these two chromosome abnormalities in acute myelogenous leukemia. Cancer Genetics and Cytogenetics. 95, 206-209.

15. Reddy, K. S. Double trisomy in spontaneous abortions. (1997). Human Genet. 101, 339-345.

16. Reddy, K.S. Clinical management of a rare de novo translocation 46,X,t(Y;15)(pl 11.2-11.3;ql 1.2) ish t(y;15)(DYZ3+,AMELY+,SNRPN+,D15Z1+) found prenatally. (1998). Prenatal Diagnosis. 18, 294-297.

17. Reddy, K. S. and Larsen, M. B. (1998). A molecular cytogenetic and clinical evaluation of mosaic tandem duplication of 17p and Charcot-Marie-Tooth type IA neuropathy. J Med Genet. 3 5,169-172.

18. Fujimoto, A., Reddy, K. S. and Spinks, R. (1998). Interstitial deletion of chromosome 4, del (4) (qI 2q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins (8; 14). Am J Med Genet.75, 78-82.

19. Reddy, K. S. and Sulcova, V. (1998). The mobile nature of acrocentric elements illustrated by three unusual chromosome variants. Human Genet. 102, 653-662.

20. Reddy, K. S. and Sulcova, V. (1998). Pathogenetics of 45, X/46, XY gonadal mosaicism. Cytogenetics and Cell Genetics. 82, 52-57.

21. Reddy, K. S. and Grove, B. (1998). A Philadelphia negative chronic myeloid leukemia with a BCR-ABL fusion gene on chromosome 9. Cancer Genetics and Cytogenetics. 107, 48- 51. 21. 22. 22. Reddy, K. S. Trisomy 14 in anemia and leukemia. (1998). Cancer Genetics and Cytogenetics. 106, 144-151.

23. Reddy, K. S., Parson, L. and Colman, L. (1999). Jumping translocation involving chromosome 1q in a patient with Crohn disease and acute monocytic leukemia. A review of the literature on jumping translocations in hematological malignancies and Crohn disease. Cancer Genetics and Cytogenetics. 109, 144-149.

24. Reddy, K. S. (1999). Triple aneuploidy in spontaneous abortions. Clinical Genet. 56, 103- 104. 25. Reddy, K. S., Smith, D. L. and Ball, C. S. (1999). Cri du chat and Turner features in a newborn girl with an unbalanced 45,X, psu dic (5;X)(p I 5.2;p22.1) karyotype: FISH and replication banding studies. Ann de Genetique. 42, 105-108.

26. Reddy, K.S., Sulcova, V., Young, H., Blancato, J.K. and Haddad, B.R. (1999). A de novo mosaic add (3) characterized to be trisomy 14q3 I -qter using spectral karyotyping (SKY) and subtelomeric probes. Am J Med Genet. 82, 318-321.

27. Reddy, K. S. (1999). A paternally inherited deletion, del (8) (p23. 1) pat detected prenatally in an amniotic fluid sample: A review of deletion 8p23.1. Prenatal Diag. 19, 868-872.

28. Reddy, K. S., Flannery, D. and Farrer, R. J. (1999). Microdeletion of chromosome subband 2q37.3, in two patients with abnormal situs inversus. Am J Med Genet. 84, 460- 468. 28. Wang, J.,

29. Reddy, K. S., Wang, E., Halderrnan, L., Morgan, B. L. G., Lachman, R. S., Lin, H. J. and Cornford, M.E. (1999). Intrachromosomal triplication of 2ql 1.2-q2l in a severely malformed infant: case report and review of triplications and their possible mechanism. Am J Med Genet. 82, 312-317.

30. Sukumar, S., Wang, S., Hoang K, Vancherie C. M., England K., Fick R., Pagon B. and Reddy, K. S. (1999). Subtle overlapping deletions in the terminal region of chromosome 6q24.2-26: Three cases studied using FISH. Am J Med Genet. 87, 17-22.

31. Reddy, K. S. and Fugate J. K. (1999). Monosomy 18pl 1.32pter and trisomy 5pl5.3pter resulting from a familial cryptic subtelomeric rearrangement and associated with a mild phenotype was characterized by FISH assays that included MFISH and subtelomeric probes. Clin Genet. 56, 328- 332.

32. Reddy K. S, Rajangam S. and Thomas IM. (1999). Structural chromosomal anomaly in mental retardation. Indian J Pediatr. 66 (6), 937-40.

33. Reddy, K. S., Wang, S., Montgomery P., Grove W. and Robertson L.E. (2000). Fluorescence in situ hybridization identifies inversion 16 masked by t(10; 16)(q24;q22), t(7;16)(q2 1;p13.1) and t(2;16)(q37;q22) in three cases of AML-M4EO. Cancer Genet Cytogenet. 116, 148-152.

34. Reddy K. S. and Sulcova V. (2000). A FISH study of variant Philadelphia rearrangements. Cancer Genet Cytogenet. 118, 121-131.

35. Reddy K. S. and Sbeiti A. (2000). Trisomy 15 in hematological disorders. Cancer Genet Cytogenet. 116,176-177.

36. Reddy K. S., Parson L, Wang S, Mak L, Prasad D and Yu T. L. (2000). An AML-M5a patient with segmental rearrangements involving 11q23 -MLL region was identified by FISH. Cancer Genet Cytogenet. 118, 48-51.

37. Reddy K. S., Sulcova V., Schwartz S., Noble J. E., Phillips J., Brasel A., Huff K. and Lin H. J. (2000). Mosaic tetrasomy 8q: Inverted duplication 8q23.3qter in an analphoid marker. Am J Med Genet. 92:69-76. 38. Reddy K. S., Yang X., Mak L. and Wang S. (2000). A child had a reverse ETV6/AML I fusion on an apparently normal chromosome 12 and loss of ETV6 from the homolog involved in a translocation, t (12; 15) (p13; q11.2). Genes Chromosome and Cancer. 29: 106-109.

39. Reddy K. S. and Logan J J. (2000). A review of intrachromosomal triplications: Report and comparison of a new mosaic trp (l 3) (q22q33) with trp (15) (ql lql3) and trp(2)(ql1.2q2l) identified in our laboratory. Clin Genet. 58, 134-141.

40. Reddy K. S. and Murphy T. (2000). FISH characterization of the junction sequences in a jumping translocation. A case with trisomy 9p resulting from an i (9p) formation and jumping translocations of 9q whole arm to 19ptel or 8ptel. Human Genetics, 107, 268-275.

41. Reddy K. S. and Mak L. Rare mosaic unbalanced structural abnormalities confirmed using FISH on buccal mucosal cells. Ann Genet 22: 37-40, 2001.

42. Reddy K. S., Parson L, Mak L, Dighe P, Saphner T, Crow M. K and Scott M. (2001). Segmental amplification of 11q23 region identified using FISH in four patients with myeloid disorders: a review. Cancer Genet Cytogenet. 126, 139-146.

43. Reddy K. S., Parson L, Mak L, Chan J. A. (2001). An HSR on chromosome 7 was shown to be an insertion of 4-copies of 11q23 -MLL-gene region in an HIV-related lymphoma. Cancer Genet Cytogenet .129, 107- 111.

44. Reddy K. S. (2002). Jejunal Atresia. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins;Philadelphia, PA.

45. Thomas I.M., Neelamma M., Reddy K. S., Gopalkrishna B. G., and Sayee Rajangam. (2001). Translocation (9;10)pat, in a male child leading to monosomy 9p13-9pter and trisomy 10q24-10qter. Int J of Hum Genet. 4, 301-302.

46. Reddy K. S and Yang X. (2003). Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: Independent mechanism of telomere restitution on the two chromatids. Am J Med Genet.117A (3), 261-267.

47. Reddy K. S., Wang S, Groh S and Gonatas J. (2003). SKY assessment of two karyotypes with 0-6 supernumerary marker/ring chromosomes and review of previously reported cases with 2 or more markers. Am J Med Genet. 2003 118A (2), 156-171.

48. Reddy K. S. and Thagavelu M. (2003). Trisomy 5p in a prenatal case with ultrasound findings. Prenat Diagn. 1, 81-82.

49. Reddy K. S. and Huang B. (2003). Prenatal management of mosaic tetrasomy 5p. Prenat Diagn. 1, 82-85.

50. Reddy. K. (2005). Autism: Incidence of cytogenetic abnormality and fragile X syndrome. BMC Medical Genetics. 6, 3.

51. Reddy K. S., Richkind K., Ross M., and Sierra R. (2005). Translocation (X; 20) (q13; q13.3), a nonrandom abnormality in 4 cases with myeloid disorders. Cancer Genetics Cytogenetics. 157, 7073. 49. 52. Reddy K. S. (2005). Chronic lymphocytic leukemia (CLL). Atlas Genet Cytogenet Oncol Haematol. (http://www.infobiogen.fr/services/chromcancer/Anomalies/CLL.html)

53. Reddy K. S. (2005). 12p rearrangements in CLL. Atlas Genet Cytogenet Oncol Haematol. (http://www.infobiogen.fr/services/chromcancer/Anomalies/rear12pCLLID2023.html)

54. Reddy K. S. (2006). FISH panel profile in CLL. British Journal of Hematology.132, 705-722.

55. Reddy K. S., Satyadev R., Bouman D., Hibbard M. K., Lu G., and Paolo R. (2006). Review of Chronic Lymphocytic Leukemia cases with Ig/MYC translocation. A Burkitt lymphoma moniker translocation t (8; 14) (q24; q32) in a Chronic Lymphocytic Leukemia patient had a cryptic deletion in the MYC region. Cancer Genet Cytogenet.166, 12-21.

56. Reddy K. S. (2007). Double minutes (dmin) and homogeneously staining regions (hsr) in myeloid disorders: a new case suggesting that dmin form hsr in vivo. Cytogenet Genome Res.119, 53-59. 54.

57. Shafer D., Wu H., Al-Saleem T., Reddy K. S., Borghei H., Lessin S. and Smith M. (2008). Cutaneous precursor B-cell lymphoblastic lymphoma in two adult patients: clinicopathologic and FISH studies with a review of literature Arch of Derm.144, 1155-1162.

58. Reddy K. S. (2008). Two cases assessed for myeloid disorders had an unexpected twist. Cancer Genetics Cytogenetics. 181, 138-140.

59. Reddy K. S., Ansari-Lari M. and Dipasquale B. (2008). Blastic Mantle cell lymphoma with a Burkitt translocation. Leukemia and Lymphoma. 1-11.

60. Reddy K. S. and Tripodi J. (2008). Contemplations on preclinical validation of FISH probe assay for paraffin embedded tissues (PET) in hematological disorders. Cancer Genetics Cytogenetics. 183, 1-5. 58. 61. Reddy K. S. (2008). Importance of Cytogenetic Surveillance in leukemias with a designer therapy. Leukemia and lymphoma.49, 1633-1637.

62. Reddy K. S. (2008). Assessment of 1p/19q deletion by FISH in gliomas. Cancer Genetics Cytogenetics. 184, 77-86.

63. Reddy K.S., Schwartz G. E. and Jamedhor M. (2009). A fertile XY/XX chimeric male with chronic myeloid leukemia (CML) in a minor 46,XX cell line and a history of PV and trisomy 9 in the major 46,XY cell line. Leukemia and Lymphoma. 50, 1375-1380.

64. Reddy K. S. (2010). "The Conundrum of a Jumping Translocation (JT) in CVS from Twins and Review of JTs" Am J Med Genet Part A. 152A, 2924–2936.

65. Reddy K. S., Mardach R. and Bass H. (2011). Oligoarray (105K) CGH Analysis of Chromosome Microdeletions within 10q22.1q24.32. Cytogenet Genome Res. 132, 113-120.

66. Reddy K. S. (2011). Unbalanced rearrangement, der (9; 18) (p10; q10) in a patient with myeloproliferative neoplasm. Case 0001M. Atlas Genet CytogenetOncol Haematol. (http://AtlasGeneticsOncology.org/Genes/der918Case1ReddyID100052.html)

67. Reddy K. S. (2011). Unbalanced rearrangement, der (9; 18) (p10; q10) in a patient with myelodysplastic syndrome. Case 0002M. Atlas Genet Cytogenet Oncol Haematol. (http://AtlasGeneticsOncology.org/Genes/der918Case2ReddyID100053.html)

68. Reddy K. S. An addendum to the review of Jumping Translocation by Reddy KS. (2011). Am J Med Genet.

69. Reddy K. S., Aradhya S., Meck J., Tiller G., Abboy S. and Bass H. (2012). A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity. Genet Med. 15(1), 3- 13.

70. Battu R, Jeyabalan N, Murthy P, Reddy KS, Schouten JS, Webers CA. Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremiaIndian J Ophthalmol. 2016 Dec;64(12):924-929. doi: 10.4103/0301-4738.198866.

71. Muthusamy B, Selvan LDN, Nguyen TT, Manoj J, Stawiski EW, Jaiswal BS, Wang W, Raja R, Ramprasad VL, Gupta R, Murugan S, Kadandale JS, Prasad TSK, Reddy K, Peterson A, Pandey A, Seshagiri S, Girimaji SC, Gowda H. Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability. OMICS. 2017 May;21(5):295-303. doi: 10.1089/omi.2017.0009.

72. Dutta P1, Reddy KS2, Rai A3, Madugundu AK2,4,5, Solanki HS2,6, Bhansali A1, Radotra BD7, Kumar N8, Collier D9, Iacovazzo D9, Gupta P8, Raja R2, Gowda H2, Pandey A2,5, Devgun JS10, KorbonitsM9Surgery, octreotide, temozolomide, bevacizumab, radiotherapy and pegvisomant treatment of an AIP mutation positive child. J Clin Endocrinol Metab. 2019 May 24. pii: jc.2019-00432. doi: 10.1210/jc.2019-00432. [Epub ahead of print]

73. .Bandari AK1,2,3, Bhat S4, Archana MV4, Yadavalli S1, Patel K1,5, Rajagopalan P1, Madugundu AK1,2,3,6,7, Madkaikar M8, Reddy K1, Muthusamy B1,2,3, Pandey A3, Family-Based Next Generation Sequencing Study Identifies an IL2RG Variant in an Infant with Primary Immunodeficiency,7.6 OMICS. 2019 May;23(5):285-290. doi: 10.1089/omi.2018.0196.

74.Reddy M and Reddy K. S. Two Indian families with Xeroderma Pigmentosa with unique mutations by Next Generation sequencing. (manuscript under preparation).

SCIENTIFIC MEETINGS ATTENDED:

Platform Presentation

1. Reddy K. S., Huang B and Thangavelu M. Ultrasound impact on Cytogenetics: experience of a large prenatal diagnostic center. The American Society of Human Genetics, Baltimore, MD, October 15-19, 2002.

2. Pilchman K., Mueller S., Pearle P., Ruzika R. and Reddy K. S. Low unconjugated estriol pregnancies and prenatal diagnosis The American Society of Human Genetics, Los Angeles, CA. November 4-8, 2003.

3. Kavita S Reddy. A model for the formation of 11q segmental amplifications or hsr based on structure defined by aCGH in leukemia. 12th ICHG, Montreal, Canada, October 11-15, 2011.Poster presentations 2015

4. ASHG meeting at Baltimore, USA. November 6-12, 2012ASHG meeting at San Francisco, USA. October 6-12, 2012. Whole-exome sequencing enhances our understanding of growth hormone secreting pituitary adenomas.

Dr. Kavita S Reddy1, Prof. Marta Korbonits2, Anil K. Madugundu1, Savitha

Sekhar1, Prof .Kanchan K Mukerjee3, Prof. Anil Bhansali3, Dr. Prakamya Gupta3,

Dr. Ashutosh Rai3, Dr. Harsha Gowda1, Dr. Rakesh Kumar Vashista3, Dr. Bishan Das Radotra3, Dr. Akhilesh Pandey1, Dr. Pinaki Dutta3

5. Lupus 2015, Vienna, Austria,Sept 6-12, 2015. Whole exome sequencing (WES) in a family with an autosomal recessive (AR) co-segregation of C1QB:NM_000491:exon3:c.G232:p.G78R single nucleotide variant (SNV) and systemic lupus erythematosus (SLE) in two brothers’ Kavita S Reddy1, Arun Patil1, Pavithra Rajagopal1, Dr Akhilesh Pandey1, Dr Subramanian Shankar 2

Poster Presentation

1. ASHG meeting at San Francisco, USA. November 6-12, 2012ASHG meeting at San Francisco, USA. November 6-12, 2012.Genetics of precocious puberty: A proband with Klinefelter syndrome, maternal uniparental disomy 14 and precocious puberty.Reddy K. S., Bass H N. and Keni J. Kaiser Permanente Southern CA.

2. 12th ICHG meeting at Montreal, Canada, October 11-15, 2011.

A complex de novo 4 cell line mosaic with gains of 4p15.32pter and 12p13.31pter in a patient with intellectual disability, scoliosis and foot abnormalities. Syed Ajaz Ahmed and Kavita S. Reddy. 3. 12th ICHG meeting at Montreal, Canada, October 11-15, 20 A de novo 4.7 Mb deletion 6p21.2p21.31 and an insertion of chromosome 6p23p21.31 intochromosome 3q26.32 with a pericentric inversion 3p25q26.32. Diane Broome and Kavita S. Reddy.

4. 60th ASHG at Washington D.C., November 1-5, 2010.Jumping translocation: A conundrum. Kavita S. Reddy.

The American Society of Human Genetics, Los Angeles, CA. November 4-8, 2003. Meiotic 3:1 segregation outcome in POCs and livebirths. M LeMieux, and Kavita S Reddy. 5. The American Society of Human Genetics, Los Angeles, CA. November 4-8, 2003. Autism: Incidence of cytogenetic abnormality and fragile X syndrome. Reddy K. S. and the Diagnostic teams.

6. The American Society of Human Genetics Meeting, San Diego, CA, October 12-16, 2001. Deletion 4q21.1q23 in a newborn with hypogonadotropic hypogonadism and multiple abnormalities. Guze C., Bruni R., Reddy K. S, Hassan R., Baker.

7. The American Society of Human Genetics meeting, San Diego, CA, October 12-16, 2001. Detection of a submicroscopic deletion 1p36.3 in a patient with mosaicism for trisomy 9p resulting from der (1) t(1;9)(p36.3;p13) using a subtelomeric FISH probe. NJ Carpenter, X Yang, B Moghaddam, ME Floyd, KS Reddy.

8. The American Society of Human Genetics meeting, San Diego, CA, October 12-16, 2001 Cryptic terminal deletions are they precursors to chromosome rearrangements. Reddy K. S. and Yang X.

9. The American Society of Human Genetics meeting, San Diego, CA, October 12-16, 2001 A prospective, double-blind study comparing results of G-banding and SKY methodologies in 89 neonates referred for cytogenetic testing. A Anguiano, A Sbeiti, K Hoang, s Wang, A Fraser, M Ayad, K Reddy, B White.

10. European Human Genetics Conference 2000, Amsterdam, The Netherlands, May 27-30,2000. Rare mosaic unbalanced structural abnormalities confirmed using FISH on buccal mucosal cells. K S Reddy and Mak L

11. The American Society of Genetic Technologists Meeting, Scottsdale, A7, June 2000 Spectral karyotyping (SKY) of marker chromosomes. Sulcova V, Hoang K, Wang S, Anguiano A, White B, Reddy K. S

12. The American Society of Human Genetics Meeting, Philadelphia, PA, October 3-7, 2000. Five cases with segmental amplification of 11q23 region identified by FISH in patients with AML, SAML or HIV related lymphoma and a poor prognosis.Parsons L, Mak L, Dighe P, Saphner T, Crow M. K, Scott M, Reddy K. S.

13. The American Society of Human Genetics, Philadelphia Meeting, PA, October 3-7, 2000. Equivocal cases of Her-2 gene amplification detected by fluorescence in situ hybridization. Espionza F. P, Yang X, Reddy K. S.

14. The American Society of Human Genetics Meeting, Philadelphia, PA, October 3-7, 2000. Fusion of 9 beta satellite and telomere (TTAGGG) n sequences results in a jumping translocation. Reddy K. S. and Murphy T.

15. The American Society of Human Genetics Meeting, Philadelphia, PA, October 3-7,2000 Spectral karyotyping (SKY) of marker chromosomes.White B, Sulcova V, Hoang K, Wang S, Anguiano A, Reddy KS

16. The American Society of Human Genetics Meeting, Philadelphia, PA, October 3-7, 2000 Spectral karyotyping (SKY) refines complex G-banded karyotypes in hematological malignancy. Sulcova V, Hoang K, Wang S, Anguiano A, White B, Reddy K. S

17. Application of SKY to oncology.

Quest Diagnostics Inc., Van Nuys, CA. Aug 2000

K. .S. Reddy

18. The American Society of Human Genetics Meeting, San Francisco, CA, October 19-23,1999. Towards the clinical validation of spectral karyotyping (SKY). Anguiano. A, Sulcova. V, M. Ayad, A. Sbeiti, A. Fraser, Wang S, L. Edwards, K. Reddy, B. White.

19. The American Society of Human Genetics Meeting, San Francisco, CA, October 19-23,1999. A FISH study of the variant Philadelphia rearrangements. K. S. Reddy, Sulcova V.

20. The American Society of Human Genetics Meeting, San Francisco, CA, October 19-23,1999. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: Three cases studied by FISH. S. Sukumar, S. Wang, C. M. Vanchiere, K. England, R. Fick, B. Pagon, K. S. Reddy.

21.The American Society of Human Genetics Meeting, San Francisco, CA, October 19-23,1999. An analphoid marker chromosome shown to be an inverted duplication 8q23qter with neocentromere. V. Sulcova, K. S. Reddy, S. Schwartz, J. Noble, H. Lin.

22. Second European Cytogenetic Conference. Vienna, Austria, July 3-6, 1999. A derivative add (18)(p11. 3 2) resulting from a familial cryptic subtelomeric rearrangement and associated with a mild phenotype: Characterized by FISH assays that included M-FISH and subtelomeric probes. K. S. Reddy, J. K. Fugate.

23. Second European Cytogenetic Conference. Vienna, Austria, July 3-6, 1999. FISH identifies inversion 16 masked by translocations t(10; I 6)(q24;q22), t(7;16)(q21;q22), and t(2;16)(q37;q22) in three cases of AML-M4EO.

K. S. Reddy, S. Wang, P. Montogomery, W. Grove, L. E. Robertson.

24. Kaiser Permanente, Pasadena, CA, 1999.

Clinical Application of FISH technology. Reddy K S.

25. 30th Annual Meeting of the European society of Human Genetics. Lisbon Portugal. May 10- 1 3, 1998. Double Trisomy in spontaneous abortions K. Reddy.

26. The American Society of Human Genetics Meeting, Denver, CO, October 27-31, 1998. A microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum: a conclusive diagnosis using FISH and sub-telomeric probe.

J. R. Farrer, K. S. Reddy, and D Flannery.

27. The American Society of Human Genetics Meeting, Denver, CO, October 27-31, 1998. Deletion of chromosome sub-band 8p23.3-pter. K. Reddy.

28. European society of Human Genetics, Genoa, Italy, May 17-20, 1997.

A tale of three mosaics.

K. Reddy, V. Sulcova.

29. The American Society of Human Genetics Meeting, Baltimore, MD, October 28 Novemberl,1997. A molecular cytogenetic and clinical evaluation of mosaic tandem duplication 17p and Charcot Marie-Tooth type IA neuropathy. M. B. Larsen and K. S Reddy.

30. The American Society of Human Genetics Meeting, Baltimore, MD, October 28-November l,1997. Pattern of 45, X/46,XY mosaicism in the Gonad. K. S. Reddy and V Sulcova

31. The American Society of Human Genetics Meeting, Baltimore, MD, October 28-November 1, 1997. FISH characterization of unusual familial variants involving mobile acrocentric elements. V Sulcova and K. S. Reddy

32. 9th International Congress of Human Genetics, Rio de Janeiro, Brazil, August 18-23, 1996. A new promyelocytic leukemia (PML) gene rearrangement masquerading as a cytogenetic complex 15/17 translocation. K. S. Reddy, V Sulcova, J. J Petrus

33. The American Society of Human Genetics meeting, Minneapolis, MN, October 24-28, 1995. Replication kinetics of the autosomal portion of the derivative X chromosome from a 46, X, der(X)t(X;3)(q22;p21) case. K. S. Reddy

REFERENCES

Wayne W. Grody, M.D., Ph.D.

Professor

Divisions of Medical Genetics and Molecular Diagnostics

Departments of Pathology. & Lab. Medicine, Pediatrics, and Human Genetics

UCLA School of Medicine

UCLA Institute for Society and Genetics

Director, Molecular Diagnostic Laboratories and Clinical Genomics Center

UCLA Medical Center

Los Angeles, CA 90095-1732

310-***-****

ad0xie@r.postjobfree.com

Dr Karin Blakemore

Professor

Departments of Gynecology and Obstetrics and Oncology, School of Medicine Associate Professor, Department of Population and Family Health Sciences School of Hygiene and Public Health

The Johns Hopkins Hospital

Dept. of Gynecology & Obstetrics

Phipps Building, Room 228

Baltimore, MD 21287-1228

Phone: 410-***-****

Fax: 410-***-****

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