Academic Interests: Clinical Cytogenetics

Research in our laboratory focuses on the conventional and molecular characterization of human developmental disorders. Specifically, we are interested in the mechanisms and consequences of chromosomal abnormalities, which result in abnormal phenotype, mental retardation and behavioral disorders. Research work is aided by the use of Fluorescence In Situ Hybridization for the identification and characterization of microdeletions and cryptic telomere rearrangements. Clinical services include tissue culture and cytogenetic diagnosis for amniotic fluid, blood, bone marrow, solid tissue and tumor specimens and FISH analysis of genetic disorders and syndromes.

Selected Publications:

Rose EL, Bofill JA, Shenefelt RE, Yu CW, Perry KG. Ascertainment of 68, XX double aneuploidy by midtrimester biochemical screening: A case report, Am. J. Perinat. 15: 229-232, 1998.

Yu CW, Bock G-H, Smith-Jefferson S, Rhodes PG, Graves RC, LeBlanc MG, Glick C, Larmon E, Soofi M, Shenefelt RE. Clinical and cytogenetic studies in four cases of trisomy 22, Am. J. Hum. Genet. 63: (4) 125, 1998.

Yu CW, Yang Y, Bowles AP, Perkins E, Fratkin JD. Clonal chromosome evaluation in a case of meningioma, Proc. Greenwood Genet. 18:192, 1999.

Ing PS, Van Dyke DL, Caudill SP, Reidy JA, Yu CW, Zenger-Hain J, Chen ATL. Detection of mosaicism in amniotic fluid cultures: A cyto2000 collaborative study, Genet. Med. 1: 94-97, 1999.

Yu CW, Bock H-G, LeBlanc M, Shenefelt RE. Double chromosome abnormalities—mosaic monosomy 13 and extra marker iso(22q) in a new born, Am. J Hum Genet. 65: (4) 364, 1999.

Fang Q, Stevens CS, Hurley SL, North E, Yu CW. Distal 10q trisomy due to familial translocation, Proc. Greenwood Gewnet. 19:132-133, 2000.

Hurley SL, Perry K, North E, Little C, Barnett B, Yu CW. Cytogenetic case study of mosaic tetrasomy 8p, J Asso. Genet. Tech. 26:141, 2000.

Yu CW, Yang Y, Perkins E, Lancon J. Complex chromosomal anomalies in a case of ependymoma, Proc. Greenwood Genet. 20: 187, 2001.

Yu CW, Bock H-G, Megason FG, LeBlance MH, Rhodes PG. Comparison of whole chromosome painting probes and telomere region probes in identifying de novo chromosomal duplication, Am. J. Hum. Genet. 69: 4 supple. 327, 2001.