Director (Dr. Jie Xu), development and research, and publications




Jie Xu, PhD, FCCMG
Director, Cytogenetics Laboratory
Associate Professor, Department of Pathology

London Health Sciences Centre
University of Western Ontario
Victoria Hospital
800 Commissioners Road, East, Rm B10-124
London, Ontario,
Canada, N6A 4G5

Tel: (519) 667-6632
Fax: (519) 667-6720

Email: Jie.Xu@lhsc.on.ca
Web: http://www.lhsc.on.ca/lab/cytogen

Dr. Jie Xu is the Director of the Cytogenetics Laboratory with 17 highly qualified staff at London Health Sciences Centre. He is an Associate Professor in the Department of Pathology, The University of Western Ontario. He is a clinical cytogeneticist certified currently by Canadian College of Medical Geneticists (CCMG; from Sept 21, 2002 to date) and previously by American Board of Medical Genetics (from Sept 1, 1999 to Dec 31, 2009). He earned his Ph.D. in molecular cytogenetics at the University of Guelph. He is a member of the newly established CCMG Laboratory Practice Committee. He is a certified Assessor for Ontario Laboratory Accreditation Program, Quality Management Program-Laboratory Services.

A. Studies of cytogenomic abnormalities associated with prenatal and postnatal diseases (e.g. mental retardation, developmental delay, dysmorphism, infertility, miscarriages or autism) and cancers (e.g. leukemia, lymphomas, and tumors of breast, brain, gonad, eye, kidney and skeletal muscle).

B. Development and application of new molecular cytogenetics methods, such as FISH, spectral karyotyping, or microarrays. These new methods have potential in 1) identification of disease-causing genes, breakpoints, copy number changes, uniparental disomy or loss of heterozygosity; 2) correlation of cytogenomic and clinicopathologic findings; and 3) diagnosis, prognosis, prevention and treatment of human diseases.

A. Journal articles

24. Caragea, M, Allevato, P, Hamm, C, Xu, Jie, Rizkalla, K. In-situ mantle cell lymphoma: a case report of a new entity in the field of haematopathology. Canadian Journal of Pathology. 2012:4(1); in press.

23. Dawson, A, McGowan-Jordan, J, Chernos J, Xu, Jie, Lavoie, J, Wang, JC, Steinraths, M, Shetty, S. CCMG guidelines for the indications, analysis and reporting of cancer specimens. Current Oncology, 2011:18(5):e250-255.

22. Dawson, A, Chernos, J, McGowan-Jordan, J, Lavoie, J, Shetty, S, Steinraths, M, Wang, JC, Xu, Jie. CCMG Guidelines: Prenatal and Postnatal Diagnostic Testing for Uniparental Disomy (UPD). Clin Genet 2011:79:118-124.

21. Xu, Jie, Siu, VM. 2010. Is there a correlation between the proportion of cells with isodicentric Yp at amniocentesis and phenotypic sex? Prenat Diagn. 2010; Vol 30 (9): 839–844.

20. Xu, Jie, Souter, LH, Chambers, AF, Rodenhiser, DI, Tuck. AB. 2008. Distinct karyotypes in three breast cancer cell lines 21PTCi, 21NTCi, and 21MT-1 derived from the same patient and representing different stages of tumor progression. Cancer Genetics and Cytogenetics 186:33-40.

19. Xu, Jie, Fan YS, Siu VM. 2008. A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome? Am J Med Genet Part A 146A:1886-1889.

18. Xu, Jie, Chambers, A, Tuck, A, Rodenhiser DI. 2008. Molecular cytogenetics characterization of two human breast cancer cell lines MDA-MB-468 and its variant 468LN with aggressive lymphatic metastasis. Cancer Genetics and Cytogenetics. 181: 1-7.

17. Nowaczyk MJ, Carter MT, Xu J, Huggins M, Raca G, Das S, Martin CL, Schwartz S, Rosenfield R, Waggoner DJ. 2008. Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. Am J Med Genet A. 146A(3):354-360

16. Xu, Jie, Mak, L., Jung J . 2007. Amniotic fluid with an inconclusive result by interphase FISH and 45,X by routine G-banding turned out to have 46,X,+mar.ish der(X)(DXZ1+). Prenat Diagn. 2007; 27(13): 1258-1259.

15. Xu, Jie, Richmond, C, Nan, S. 2007. Cytogenetics success rate of the samples collected in wrong media, delayed in transit or frozen. J Assoc Genet Technol 2007; 33(3): 100.

14. Wei, S, Siu, VM, Decker A, Quigg MH, Roberson J, Xu, Jie , Adeyinka, A. 2007. False-positive prenatal diagnosis of trisomy 18 by interphase FISH: Hybridization of chromosome 18 alpha-satellite DNA probe (D18Z1) to the heterochromatic region of chromosome 9. Prenat Diagn 2007:27(11):1064-1066.

13. Parfitt, JR, Xu, Jie, Kontozoglou, T, Olewafemi, AR, Driman, DK. 2007. Primary Monophasic Synovial Sarcoma of the Colon. Histopathology 50:521-523.

12. Zwaigenbaum, L, Sonneberg, LK, Heshka, T, Eastwood, S, and Xu, Jie. 2005. A girl with PDD and complex chromosome rearrangement involving 8p and 10p. J Autism Dev Disord, 35(3): 393-399.

11. Xu, Jie, Zwaigenbaum, L, Szatmari, P, and Scherer SW. 2004. Molecular cytogenetics of autism. Invited Reviews, Current Genomics, 5(4):347-364.

10. Xu, Jie and Chen, Zhong. 2003. Advances in molecular cytogenetics for the evaluation of mental retardation. Invited Reviews. Am J Med Genet (Semin Med Genet) 117C:15-24.

9. Nowaczyk, MJM, Bayani, J, Freeman, V, Watts, J, Squire, J, and Xu, Jie. 2003. De novo 1q32q44 duplication and distal 1q trisomy syndrome. Am J Med Genet 120A:229-233.

8. Ling, E, and Xu, Jie. 2003. Microarrays and their potential in medicine. Invited Reviews. Journal of Clinical Medicine in Practice 7(1): 66-70.

7. Xu, Jie, Wang, A, and Chen, J. 2002. New developments in primed in situ labelling methods and applications. J Jiangsu Clin Med 6(3):169-174.

6. Xu, Jie, Freeman, V, Smith P, and Huggins, M. 2002. Fluorescence in situ hybridization of uncultured lymphocytes from cystic hygroma fluid: a potential approach for rapid prenatal diagnosis. Letter to the Editor. Prenat Diag 22(1):81-2.

5. Xu, Jie, Chernos J, Bernier, F, and Lowry, RB. 2000. Characterization of an interstitial deletion del(13)(q22q32) using microdissection and sequential FISH and G-banding. Genet Test 4:279-282.

4. Xu, Jie, Freeman, V, Carter, RF, Paes, B, Heshka, T, and Nowacyzk, MJM. 2000. Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p. Am J Med Genet 93:285-289

3. Fan, YS, Jung, JH, Siu, VM, and Xu, Jie. 2000. Sensitivity of multiple color spectral karyotyping in detecting small interchromosomal alterations. Genet Test 4:9-14.

2. Xu, Jie, Poon, MC, Ruether, A, and Roland, B. 1998. Two new cases of myelodysplastic syndrome with 45,X,-X. Cancer Genet Cytogenet103:76-77.

1. Xu, Jie, Chernos, J. and Roland, B. 1997. Trisomy 16pter to 16q12.1 and monosomy 22pter to 22q11.2 resulting from adjacent-2 segregation of a maternal complex chromosome rearrangement. Am J Med Genet 73:327-329

B. Journal abstracts/conference posters

54. Xu, Jie. 2011. FISH testing for HER2 in breast cancer: brief reviews of guidelines, controversy and advancement. Oral presentation and abstract for the 49th Great Lakes Chromosome Conference, May 19-20, 2011, Toronto, ON

53. Siu, VM, Xu, Jie. 2011. Array-based CGH findings in two children with TAR syndrome, one with and one without the common 1q21.1 deletion. Abstract/poster for 2011 ACMG Annual Clinical Genetics Meeting, March 16-20, 2011, Vancouver, BC.

52. Siu, VM, Xu, Jie. 2011. A de novo 1.3 Mb deletion in 17p21.31 associated with partial agenesis of corpus callosum and pervasive developmental disorder. Abstract/poster for First Annual ISCA Consortium Conference, Jan 31 - Feb 1, 2011, Atlanta, GA

51. Xu, Jie, Siu, VM, Jung, J. 2010. aCGH reveals that G-banding pattern of a chromosome segment, when translocated, may change; diagnostic implications. Abstract/Presentation for the 48th Great Lakes Chromosome Conference, Toronto, May 20-21, 2010.

50. Xu, Jie, Jung Jack. 2010. A girl with developmental delay and size asymmetry of the cerebral hemispheres and 47,XX,+der(14)t(3;14) characterized by G-banding, FISH, UPD test and aCGH. 2010 American College of Medical Genetics - 17th Annual Clinical Genetics Meeting, March 24-28, Albuquerque, New Mexico, USA; Poster 96.

49. Siu, VM, Xu, Jie. 2010. A 7.4 Mb deletion by aCGH in 18q12.1q12.3 associated with unexpected alteration of in G-banding staining pattern. 2010 American College of Medical Genetics - 17th Annual Clinical Genetics Meeting, March 24-28, Albuquerque, New Mexico, USA; Poster 113.

48. Xu, Jie, Minuk, L, Howson-Jan, K, Rizkalla, K. 2009. Case with a complex karyotype including t(8;14) and t(14;18) and preservation of follicular pattern in a transformed lymphoma. American Society of Human Genetics 59th Annual Meeting, Oct 20-24, 2009, Honolulu, Hawaii. Abstract No. 1272.

47. Mangel, J, Chin-Yee, I, Howson-Jan, K, Collins, S, Xu, Jie. 2009. Patient with APL had PML/RARA fusion by FISH but no t(15;17) translocation by G-banding mid-way through treatment. American Society of Human Genetics 59th Annual Meeting, Oct 20-24, 2009, Honolulu, Hawaii. Abstract No. 1266.

46. Xu, Jie, Siu, VM, Jung J. 2009. Revisiting G-banding in the era of aCGH; case review. Abstract for The 47th Great Lakes Chromosome Conference, Toronto, May 14-15, 2009.

45. Xu, Jie, Souter, LH, Chambers, AF, Rodenhiser, DI, Tuck, AB. 2009. FISH amplification pattern of a novel der(17) rearrangement involving the HER2 gene in three breast cancer cell lines 21PTCi, 21NTCi, and 21MT-1 derived from the same patient and representing different stages of tumor progression". 2009 American College of Medical Genetics Annual Clinical Genetics Meeting, March 25 - 29, 2009, Tampa, Florida, USA. Abstract No. 113.

44. Sluyters A, Goobie, S, Xu, Jie. 2009. A fetus with double trisomy (48,XX,+18,+21): case report and literature review. 2009 American College of Medical Genetics Annual Clinical Genetics Meeting; March 25 - 29, 2009, Tampa, Florida, USA. Abstract No. 123.

43. Xu, Jie, I. Chin-Yee, I, Mangel, J, Howson-Jan, K, C. Hamm, C. 2008 Two cases of mantle cell lymphoma with normal chromosomes 11 and 14 by G-banding but IgH/CCND1 gene fusion by FISH. American Society of Human Genetics 58th Annual Meeting, Nov 11-15, Philadelphia, Pennsylvania. Abstract No. 1198.

42. Siu VM, Xu, Jie. 2008. Differing clinical presentation between a mother and son with the same inherited 22q11.21q11.23 microduplication. American Society of Human Genetics 58th Annual Meeting, Nov 11-15, Philadelphia, Pennsylvania. Abstract No. 1049.

41. Xu, Jie, Nan, S, Siu, VM. 2008. Apparently Fragile (X) chromosome turns out to be a translocated X involving Xq27; warning when chromosome finding fits clinical indications. Abstract for The 46th Great Lakes Chromosome Conference, Toronto, May 15-16, 2008.

40. Xu, Jie, Hamilton, B, Siu VM. 2007. Duplication of 16q22.3qter/13.6 Mb DNA characterized by G-banding, FISH, SKY and array CGH. 57th Annual Meeting of American Society of Human Genetics, San Diego, California, Oct 23-27, 2007. Abstract No. 1647.

39. Xu, Jie, Hamilton, B, Mak, L, Siu, MS. 2007. Microdeletion of distal 15q characterization by FISH and CGH microarray. Abstract for The 45th Great Lakes Chromosome Conference, Toronto, May 17-18, 2007.

38. Xu J, Howson-Jan K, Chin-Yee I, Hamilton B, Richmond C. 2007. The presence of double translocations, a new variant t(2;12) and a classical t(9;22), in AML. AMERICAN COLLEGE OF MEDICAL GENETICS 2007 Annual Clinical Genetics Meeting, March 21-25, 2007, Nashville, Tennessee, USA. Poster/abstract No 79.

37. Jung J, Xu J. 2007. A case of ?Turner syndrome with 45,X in amniocytes and 45,X/47,XXX in postnatal blood and skin tissues; a new visit to an old condition. AMERICAN COLLEGE OF MEDICAL GENETICS 2007 Annual Clinical Genetics Meeting, March 21-25, 2007, Nashville, Tennessee, USA. Poster/abstract No 87.

36. Xu, J, Mak L, Richmond, C, Lohmann, R. 2006. Complex chromosome rearrangement t(8;21)(p21;q22.1)inv(8)(p21q22.1), a novel variant of t(8;21) in acute myeloid leukemia. 56th Annual Meeting of The American Society of Human Genetics, October 9-13, 2006, New Orleans, Louisiana, USA; Meeting Abstract No. 327.

35. Jung, J, Xu, J. 2006. A male with a small duplication at 17p11.2 (Smith-Magenis region) characterized by FISH and microarray CGH. 56th Annual Meeting of The American Society of Human Genetics, October 9-13, 2006, New Orleans, Louisiana, USA; Meeting Abstract No. 767.

34. Cui, YX, Xia, XY, Pan, LJ, Wang, YH, Xu, J, Huang, YF. 2006. An infertile male with apparent 45,X turned out to have 45,X,der(Y)t(Y;13)(q11;q11), -13; Clinicopathologic and cytogenomics studies. 56th Annual Meeting of The American Society of Human Genetics, October 9-13, 2006, New Orleans, Louisiana, USA; Meeting Abstract No. 782.

33. Xu , Jie, Nan, S,. Munavish, D, I. Chin-Yee, I, Barr, RM, Minuk, L, Xenocostas, A. 2005. Complex translocation (8;21;2): a new variant of translocation (8;21) in acute myeloid leukemia. 55th Annual Meeting of The American Society of Human Genetics, October 25-29, 2005, Salt Lake City, Utah, USA; Meeting Abstract No. 293.

32. Prasad, C, Campbell, C, Conachar, S, Jung, J, Xu , Jie. 2005. A girl with 22q13.33 subtelomeric deletion and very friendly personality! 55th Annual Meeting of The American Society of Human Genetics, October 25-29, 2005, Salt Lake City, Utah, USA. Meeting Abstract No. 771.

31. Lavoie J, Xu Jie, Shago M, Carter RR, Khan AA. 2005. Cytogenetic characterization of Y chromosome structural anomalies in two patients presenting with short stature. 55th Annual Meeting of The American Society of Human Genetics, October 25-29, 2005, Salt Lake City, Utah, USA. Meeting Abstract No. 776.

30. Chen, Z, Li, HY, Li, XH, Huang, CN, Son, XM, Xu Jie. 2005. A girl with an apparently balanced chromosome inversion (5)(p13q13) and atypical autism and mental retardation. 55th Annual Meeting of The American Society of Human Genetics, October 25-29, 2005, Salt Lake City, Utah, USA. Meeting Abstract No. 768.

29. Xu, Jie, Hamilton, B, Munavish, D, Megyesi, J, Harry, V, Chakrabarti, S, Hammond, R. 2005. Deletion of 1p36/19q13 in a brain tumor detected by FISH but missed by PCR. Abstract for The 43rd Great Lakes Chromosome Conference, Toronto, May 19-20, 2005.

28. Pautler, S, Windquist, E, Ernst, S, Munavish, D, and Xu, Jie. 2005. A patient with familial testicular cancer and multiple chromosome anomalies in the peripheral blood. Abstract for The 43rd Great Lakes Chromosome Conference, Toronto, May 19-20, 2005.

27. Munavish, D, Hamilton, B, Nan, S, Jung, J, Ettler, HC, and Xu, Jie. 2005. Prenatal detection of a de novo and apparently balanced complex chromosome rearrangements involving 6 breakpoints. Abstract for The 43rd Great Lakes Chromosome Conference, Toronto, May 19-20, 2005.

26. Xu, Jie and Hucker, SJ. 2005. A male-to-female transsexual with a balanced chromosome translocation t(6;14)(q23.1;q32.1); a case report and literature review. Abstract # 172; 2005 ACMG Annual Clinical Meeting, Dallas, Taxes, USA, March 17-20, 2005.

25. Xu, Jie, Zwaigenbaum, L, Szatmari, P, and Scherer SW. 2005. Cryptic chromosomal rearrangements associated with autism, brief review. Invited speaker and Chairperson in The 1st International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism, Troina, Italy, April 8-9, 2005. The Meeting Abstract Book pp10.

24. Xu, Jie, Heshka T, Whelan D, Cui J-X, Hang F-Y and Xie Y-G. 2004. Molecular cytogenetics characterization of trisomy 13/trisomy 18 mixoploidy in a boy with moderate clinical features. 54th Annual Meeting of The American Society of Human Genetics, Toronto, Canada, October 26-30, 2004; Meeting Abstract pp188.

23. Nowaczyk, MJM and Xu, Jie. 2004. A newborn baby with multiple numerical and structural chromosomal anomalies; what a chromosome instability syndrome it is? 54th Annual Meeting of The American Society of Human Genetics, Toronto, Canada, October 26-30, 2004; Meeting Abstracts pp181.

22. Ronen GM and Xu Jie. 2004. Monosomy 1p36/trisomy 5q35.1 in a baby girl with seizures, hypotonia and developmental delay. 54th Annual Meeting of The American Society of Human Genetics, Toronto, Canada, October 26-30, 2004; Meeting Abstracts pp183.

21. Bourgeois, J, and Xu, Jie. 2004. Karyotypic discrepancy between the amniocytes and CVS in prenatal diagnosis and the skin tissue of the abortues. 54th Annual Meeting of The American Society of Human Genetics, Toronto, Canada, October 26-30, 2004; Meeting Abstracts pp173.

20. Watts J, Janes, M and Xu Jie. 2004. Trisomy 8 mosaicism, a new case of the old syndrome. 54th Annual Meeting of The American Society of Human Genetics, Toronto, Canada, October 26-30, 2004; Meeting Abstracts pp187.

19. Zwaigenbaum L, Heshka T. and Xu Jie. 2004. A boy with an apparently balanced three-way translocation t(5;8;17) and autism. 54th Annual Meeting of The American Society of Human Genetics, Toronto, Canada, October 26-30, 2004, Meeting Abstracts pp189.

18. Khan A, Whelan D, and Xu, Jie. 2004. Maternal cell contamination in cord blood in a newborn baby with ambiguous genitalia: a warning. 54th Annual Meeting of The American Society of Human Genetics, Toronto, Canada, October 26-30, 2004; Meeting Abstract pp178.

17. Carter, MT, Huggins, M, Xu, Jie, and Nowaczyk, MJM. 2004. De novo interstitial deletion (6)(q25.1q25.3) in a girl with normal development. 54th Annual Meeting of The American Society of Human Genetics, Toronto, Canada, October 26-30, 2004, Meeting Abstracts pp166.

16. Xu, Jie, Zwaigenbaum, L, Szatmari, P, and Scherer SW. 2004. Molecular cytogenetics of autism; diagnostic implications. Oral presentation/poster; Great Lake Chromosome Conference, Toronto, Canada. May 13-14, 2004.

15. Xu, Jie, Huggins, MJ, Heshka, T, Farrell, S, and Nowaczyk, MJM. 2003. Mosaic sex chromosome anomalies in a normal appearing male newborn: prenatal and postnatal molecular cytogenetics studies. Am J Hum Genet, 73(Suppl):307.

14. Nowaczyk, MJM and Xu, Jie. 2003. Prenatal level II mosaic marker representing true fetal mosaicim: What is the lesson? Am J Hum Genet, 73(Suppl):304.

13. Bourgeois, J, and Xu, Jie. 2003. 45,X/46,XY mosaicism confined to amnion in a stillborn 46,XY male with IUGR. Am J Hum Genet. 73(Suppl):300.

12. Chen Z, Tang D, Huang CN, Song XM, and Xu Jie. 2003. Double balanced translocations t(5;22) and t(6;8) in a woman with recurrent miscarriages. Am J Hum Genet. 73(Suppl):301.

11. McLeod, DR, Chernos, J, and Xu, Jie. 2003. Monozygous twins with a marker chromosome der(11)D11Z1+ with IUGR, aortic coarctation, hypospadias and leg length asymmetry in twin B. 24th Annual DW Smith Workshop on Malformations and Morphogenesis, Vancouver, BC, August 7-12, 2003.

10. Xu, Jie, and Bourgeois, J. 2002. FISH of kidney touch preparation, a useful approach to chromosome studies of products of conceptions. Am. J. Hum. Genet. 71:303.

9. Huggins, MJ, Ramsay, JA, and Xu. Jie. 2002. Prenatally detected triploidy/trisomy 7 mosaic. Am. J. Hum. Genet. 71:294.

8. Tomc, LK, Heshka, T., Zwaigenbaum, L., Eastwood, S, and Xu, Jie. 2002. A girl with velocardiofacial phenotype and complex chromosome rearrangements involving 8p and 10p. Am. J. Hum. Genet. 71:298.

7. Xu, Jie, Heshka, T, and Nowaczyk, MJM. 2001. An adjacent-2 segregation in a balanced familial t(9;15)(q32;q13) with a large centric segment. Am J Hum Genet 69:323.

6. Xu, Jie, Ling, F., and Dingle, B. 2000. Detection of homogeneous staining region (hsr) in acute lymphoblastic leukemia (ALL). Am J Hum Genet.67:73

5. Huggins, MJ, Mernagh, J, Xu, Jie, and Nowaczyk, MJM. 1999. Trisomy and Ebstein anomaly. Am J Hum Genet. 65:A152.

4. Xu, Jie, Freeman, V, and Nowaczyk, MJM. 1999. Direct duplication of 4p14p15.31. Am J Hum Genet 65:A363.

3. Bayani, J, Squire, J, Xu, Jie, Freeman, V, Watts, J, Smith, PA, and Nowaczyk, MJM. 1999. Duplication 1q32->q44 and multiple congenital anomalies. Am J Hum Genet 65:A157

2. Xu, Jie, Chernos, J, and Roland, B. 1997. Prenatal detection of tetrasomy (9p). Am J Hum Genet 61:A376.

1. Chernos J, Cole H, and Xu, Jie 1997. FISH characterization of a supernumerary marker chromosomes in monozygous twins discordant for congenital anomalies and growth. 22nd AGT book, pp17.