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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Sau Wai Cheung, Ph.D., M.B.A.

Sau Wai Cheung, Ph.D., M.B.A.

Professor, Department of Molecular and Human Genetics

Other Positions

Director, Cytogenetics Laboratory

Education

B.S., Biology, New Asia College, The Chinese University of Hong Kong, 1966
Ph.D., Biochemical Genetics, Indiana University School of Medicine, 1975
Postdoctoral Fellow and Instructor, Medicine, Harvard Medical School, 1979
M.B.A., Washington University, St. Louis, 1992

Research Interests

The primary focus of my research is to improve and enhance diagnostic precision. A secondary goal is to maximize the possibilities created by the recent gene discoveries using FISH technology (Fluorescent In Situ Hybridization). Diagnostic application of chromosome abnormalities such as prenatal diagnosis of chromosome abnormalities, exclusion of chromosomal mosaicism in amniotic fluid cultures, chromosome mosaicism in Chorionic Villus Sampling, clinical application of FISH technologies, preimplantation genetic diagnosis and recently chromosomal microarray analysis (CMA), all are powerful diagnostic tools that become more vital to the medical community as our diagnostic accuracy improves.

Chromosomal Microarray Analysis

Chromosomal Microarray Analysis

The Medical Genetics Laboratories (MGL) Cytogenetics Laboratory has pioneered the development of FISH testing involving recent gene discoveries through either close collaboration with investigators at Baylor College of Medicine (BCM) or investigators from other institutions, thereby enabling our laboratories the means to better recognize and diagnose genomic abnormalities related to certain chromosome disorders.

We began to offer chromosomal microarray analysis using BAC based comparative genomic hybridization (CGH) in February 2004. The CMA chip includes probes for virtually all known microdeletion/duplication syndromes, pericentromeric and subtelomeric regions, as well probes for some single gene disorders that may occur due to gain or loss of large DNA segments. Probes distributed randomly along all chromosome arms are also included to identify any full trisomies. Therefore, with a single test, CMA will detect almost all of the disorders detected by standard multiple FISH tests and provide a major advance in the diagnosis of patients in which a genetic cause of disability is strongly suspected but not observed by traditional cytogenetic analysis.

Our array coverage has doubled every year. In 2007, we successfully transitioned our BAC-based array to an Oligo-emulated array which significantly increased the sensitivity for detection of DNA fragments from 200Kb to less than 50Kb size. In March 2008, we launched our 105K array allowing the interrogation of the entire genome, including all subtelomeric and pericentromeric regions and enriched coverage of greater than 271 defined disease loci to a resolution of about 30 Kb while excluding repetitive sequences through a combination of bioinformatics and computation. In June 2009, we launched our 180K array allowing the interrogation of not only the entire genome but exon coverage of more than 1700 genes.

Selected Publications

  1. Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O (2009). Increased LIS1 expression affects human and mouse brain development. Nat. Genet. 41(2): 168-77. [Pub Med]
  2. Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL (2009). Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat. Diagn. 29(1): 29-39. [Pub Med]
  3. Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, Beaudet AL, Cheung SW, Chinault AC (2008). Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet. Med. 10(4): 278-89. [Pub Med]
  4. Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A (2008). 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am. J. Hum. Genet. 82 (1): 214-21. [Pub Med]
  5. Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, Chinault AC, Cheung SW, Plon SE (2008). Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood 112(4): 1042-7. [Pub Med]
  6. Patel A, Kang SH, Lennon PA, Li YF, Rao PN, Abruzzo L, Shaw C, Chinault AC, Cheung SW (2008). Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia. Am. J. Hematol. 83(7): 540-6. [Pub Med]
  7. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A (2008). Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat. Genet. 40(12): 1466-71. [Pub Med]
  8. Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL (2008). Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat. Genet. 40(6): 719-21. [Pub Med]
  9. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR (2007). Microarray-based CGH Detects Chromosomal Mosaicism Not Revealed by Conventional Cytogenetics. Am. J. Med. Genet. A. 143A(15): 1679-86. [Pub Med]

More Publications (PubMed)

Contact Information

Sau W Cheung, Ph.D., M.B.A.
Director, Cytogenetics Laboratory
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, MS NAB 2015
Houston, TX, 77030, U.S.A.

Phone: 713-798-4991
Fax: 713-798-3157
E-mail:

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