title: Microarray CGH analysis of hematological patients with del(20q).
abstract: Deletion of the long arm of chromosome 20 is a common abnormality underlying hematological malignancy. We analyzed 21 patients with hematologic diseases confirmed to carry the del(20q) by conventional cytogenetics and fluorescence in situ hybridization using microarray comparative genomic hybridization (aCGH). Seventeen patients were positive for del(20q), but this deletion was not detected in four patients. All deletions detected were interstitial of which continuous deletions were seen in 12 patients and discrete deletions in five. Three commonly deleted regions (CDRs) and two commonly retained regions (CRRs) were defined: CDR1 spanning 3.05Mb (34560497-37608229) within 20q11.23, CDR2 spanning 1.76Mb (37851501-39615698) within 20q12, CDR3 spanning 116Kb (48120412-48236791) within 20q13.13, CRR1 spanning 1.1Mb (29374726-30428250) within 20q11.21, and CRR2 spanning 2.5Mb (60484668-62963548) within 20q13.33. Duplications of retained regions (20q11.21) were found in five cases with similar erythroid hyperplasia (2 M6, 3 MDS). Moreover, duplication of 20p13-p11.21 was also found in two cases with M6. Using the CDRs and CRRs, we identified the candidate genes we searched for using the UCSC Genome Browser. Our data suggest that aCGH analysis is useful for more precisely defining breakpoints on 20q. Further work is required to identify candidate pathogenic genes within these CDRs and CRRs.
authors.affiliation: Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 shizi street, Suzhou, 215006, People's Republic of China.
authors.forename: Chunxiao
authors.initials: C
authors.lastname: Wu
authors.affiliation: Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 shizi street, Suzhou, 215006, People's Republic of China. Jinlanpan@126.com.
authors.forename: Jinlan
authors.initials: J
authors.lastname: Pan
authors.affiliation: Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 shizi street, Suzhou, 215006, People's Republic of China.
authors.forename: Huiying
authors.initials: H
authors.lastname: Qiu
authors.affiliation: Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 shizi street, Suzhou, 215006, People's Republic of China.
authors.forename: Yongquan
authors.initials: Y
authors.lastname: Xue
authors.affiliation: Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 shizi street, Suzhou, 215006, People's Republic of China.
authors.forename: Suning
authors.initials: S
authors.lastname: Chen
authors.affiliation: Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 shizi street, Suzhou, 215006, People's Republic of China.
authors.forename: Yafang
authors.initials: Y
authors.lastname: Wu
authors.affiliation: Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 shizi street, Suzhou, 215006, People's Republic of China.
authors.forename: Jun
authors.initials: J
authors.lastname: zhang
authors.affiliation: Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 shizi street, Suzhou, 215006, People's Republic of China.
authors.forename: Shuxiao
authors.initials: S
authors.lastname: Bai
authors.affiliation: Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 shizi street, Suzhou, 215006, People's Republic of China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 shizi street, Suzhou, 215006, People's Republic of China.
authors.forename: Juan
authors.initials: J
authors.lastname: Shen
authors.affiliation: Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, 188 shizi street, Suzhou, 215006, People's Republic of China.
authors.forename: Yanlei
authors.initials: Y
authors.lastname: Gong
mesh_terms: D000328:Adult; D000368:Aged; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D019337:Hematologic Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis
keywords: Commonly deleted regions; Commonly retained regions; Hematological malignancies; Microarray comparative genomic hybridization; del(20q)