Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

被引：49

作者：

Bi, Weimin ^{[1
]}

Borgan, Caroline ^{[1
]}

Pursley, Amber N. ^{[1
]}

Hixson, Patricia ^{[1
]}

Shaw, Chad A. ^{[1
]}

Bacino, Carlos A. ^{[1
,2
]}

Lalani, Seema R. ^{[1
,2
]}

Patel, Ankita ^{[1
]}

Stankiewicz, Pawel ^{[1
]}

Lupski, James R. ^{[1
,2
,3
]}

Beaudet, Arthur L. ^{[1
,2
,3
]}

Cheung, Sau Wai ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Texas Childrens Hosp, Houston, TX 77030 USA

[3] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

来源：

GENETICS IN MEDICINE | 2013年 / 15卷 / 06期

关键词：

array CGH; chromosome analysis; chromosome structural rearrangement; developmental disability; FISH; mosaicism; CGH; REARRANGEMENTS; MOSAICISM; MECHANISMS; DIAGNOSIS;

D O I：

10.1038/gim.2012.152

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: Chromosomal microarray analysis enables the detection of microdeletions/duplications and has become the standard in clinical diagnostic testing for individuals with congenital anomalies and developmental disabilities. In the era of genomic arrays, the value of traditional chromosome analysis needs to be reassessed. Methods: We studied 3,710 unrelated patients by chromosomal microarray analysis and chromosome analysis simultaneously and compared the results. Results: We found that chromosomal microarray analysis detected the chromosomal imbalances that were identified by chromosome analysis with the exception of six cases (0.16%) that had mosaic abnormalities. Of note, one case showed mosaicism for two abnormal cell lines, resulting in a balanced net effect and a normal chromosomal microarray analysis. Further structural abnormalities such as unbalanced translocations, rings, and complex rearrangements were subsequently clarified by chromosome analysis in 18% of the cases with abnormal chromosomal microarray analysis results. Apparently balanced rearrangements were detected by chromosome analysis in 30 cases (0.8%). Conclusion: Our data demonstrate that although chromosomal microarray analysis should be the first-tier test for clinical diagnosis of chromosome abnormalities, chromosome analysis remains valuable in the detection of mosaicism and delineation of chromosomal structural rearrangements.

引用

页码：450 / 457

页数：8

共 21 条

[1] Detection of low-level mosaicism by array CGH in routine diagnostic specimens [J].

Balliff, Blake C. ;

Rorem, Emily A. ;

Sundin, Kyle ;

Lincicum, Matt ;

Gaskin, Shannon ;

Coppinger, Justine ;

Kashork, Catherine D. ;

Shaffer, Lisa G. ;

Bejjani, Bassem A. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (24) :2757-2767

[2] Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH [J].

Boone, Philip M. ;

Bacino, Carlos A. ;

Shaw, Chad A. ;

Eng, Patricia A. ;

Hixson, Patricia M. ;

Pursley, Amber N. ;

Kang, Sung-Hae L. ;

Yang, Yaping ;

Wiszniewska, Joanna ;

Nowakowska, Beata A. ;

del Gaudio, Daniela ;

Xia, Zhilian ;

Simpson-Patel, Gayle ;

Immken, LaDonna L. ;

Gibson, James B. ;

Tsai, Anne C. -H. ;

Bowers, Jennifer A. ;

Reimschisel, Tyler E. ;

Schaaf, Christian P. ;

Potocki, Lorraine ;

Scaglia, Fernando ;

Gambin, Tomasz ;

Sykulski, Maciej ;

Bartnik, Magdalena ;

Derwinska, Katarzyna ;

Wisniowiecka-Kowalnik, Barbara ;

Lalani, Seema R. ;

Probst, Frank J. ;

Bi, Weimin ;

Beaudet, Arthur L. ;

Patel, Ankita ;

Lupski, James R. ;

Cheung, Sau Wai ;

Stankiewicz, Pawel .

HUMAN MUTATION, 2010, 31 (12) :1326-1342

[3] Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping [J].

Bruno, D. L. ;

White, S. M. ;

Ganesamoorthy, D. ;

Burgess, T. ;

Butler, K. ;

Corrie, S. ;

Francis, D. ;

Hills, L. ;

Prabhakara, K. ;

Ngo, C. ;

Norris, F. ;

Oertel, R. ;

Pertile, M. D. ;

Stark, Z. ;

Amor, D. J. ;

Slater, H. R. .

JOURNAL OF MEDICAL GENETICS, 2011, 48 (12) :831-839

[4] Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? [J].

Bui, The-Hung ;

Vetro, Annalisa ;

Zuffardi, Orsetta ;

Shaffer, Lisa G. .

PRENATAL DIAGNOSIS, 2011, 31 (03) :235-243

[5] Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics [J].

Cheung, Sau W. ;

Shaw, Chad A. ;

Scott, Daryl A. ;

Patel, Ankita ;

Sahoo, Trilochan ;

Bacino, Carlos A. ;

Pursley, Amber ;

Li, Jiangzhen ;

Erickson, Robert ;

Gropman, Andrea L. ;

Miller, David T. ;

Seashore, Margretta R. ;

Summers, Anne M. ;

Stankiewicz, Pawel ;

Chinault, A. Craig ;

Lupski, James R. ;

Beaudet, Arthur L. ;

Sutton, V. Reid .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (15) :1679-1686

[6] Development and validation of a CGH microarray for clinical cytogenetic diagnosis [J].

Cheung, SW ;

Shaw, CA ;

Yu, W ;

Li, JZ ;

Ou, ZS ;

Patel, A ;

Yatsenko, SA ;

Cooper, ML ;

Furman, P ;

Stankiewicz, P ;

Lupski, JR ;

Chinault, AC ;

Beaudet, AL .

GENETICS IN MEDICINE, 2005, 7 (06) :422-432

[7] Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis [J].

Conlin, Laura K. ;

Thiel, Brian D. ;

Bonnemann, Carsten G. ;

Medne, Livija ;

Ernst, Linda M. ;

Zackai, Elaine H. ;

Deardorff, Matthew A. ;

Krantz, Ian D. ;

Hakonarson, Hakon ;

Spinner, Nancy B. .

HUMAN MOLECULAR GENETICS, 2010, 19 (07) :1263-1275

[8] Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients [J].

De Gregori, M. ;

Ciccone, R. ;

Magini, P. ;

Pramparo, T. ;

Gimelli, S. ;

Messa, J. ;

Novara, F. ;

Vetro, A. ;

Rossi, E. ;

Maraschio, P. ;

Bonaglia, M. C. ;

Anichini, C. ;

Ferrero, G. B. ;

Silengo, M. ;

Fazzi, E. ;

Zatterale, A. ;

Fischetto, R. ;

Previdere, C. ;

Belli, S. ;

Turci, A. ;

Calabrese, G. ;

Bernardi, F. ;

Meneghelli, E. ;

Riegel, M. ;

Rocchi, M. ;

Guerneri, S. ;

Lalatta, F. ;

Zelante, L. ;

Romano, C. ;

Fichera, Ma ;

Mattina, T. ;

Arrigo, G. ;

Zollino, M. ;

Giglio, S. ;

Lonardo, F. ;

Bonfante, A. ;

Ferlini, A. ;

Cifuentes, F. ;

Van Esch, H. ;

Backx, L. ;

Schinzel, A. ;

Vermeesch, J. R. ;

Zuffardi, O. .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (12) :750-762

[9] Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping [J].

El-Hattab, Ayman W. ;

Smolarek, Teresa A. ;

Walker, Martha E. ;

Schorry, Elizabeth K. ;

Immken, LaDonna L. ;

Patel, Gayle ;

Abbott, Mary-Alice ;

Lanpher, Brendan C. ;

Ou, Zhishuo ;

Kang, Sung-Hae L. ;

Patel, Ankita ;

Scaglia, Fernando ;

Lupski, James R. ;

Cheung, Sau Wai ;

Stankiewicz, Pawel .

HUMAN GENETICS, 2009, 126 (04) :589-602

[10] Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform [J].

Hoang, Sarah ;

Ahn, JooWook ;

Mann, Kathy ;

Bint, Sue ;

Mansour, Sahar ;

Homfray, Tessa ;

Mohammed, Shehla ;

Ogilvie, Caroline Mackie .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (02) :121-129

← 1 2 3 →