Array-based comparative genomic hyhridization is a recently introduced technique for the detection of submicroscopic genomic imbalances (deletions or duplications) across the entire genome. To assess the potential utility of a widely available array-based comparative genomic hybridization platform that targets specific, clinically relevant, loci across the genome for cytogenetic diagnosis in a clinical setting, we reviewed the medical records of all 373 patients at Children's Hospital Boston who had normal chromosomal analysis and were tested with this targeted array-based comparative genomic hybridization over a 1-year period from November 1, 2004 to October 31, 2005. These patients were tested because of a suspicion of chromosomal abnormalities based on their clinical presentation. Thirty-six patients(9.7%) had abnormal array-based comparative genomic hybridization results. Twenty patients (5.4%) had potentially pathogenetic genomic imbalances and 16 patients (4.3%) had copy number variations that are not believed to be pathogenetic. Thirteen of 234 patients (5.6%) with mental retardation/ global developmental delay, 10/114 patients (8.8%) with facial dysmorphism, 5/58 patients (8.6%) with multiple congenital anomalies, and 4/35 patients (11.4%) with both facial dysmorphism and multiple congenital anomalies had potentially pathogenetic genomic imbalances. Targeted array-based comparative genomic hybridization is a clinically available test that is useful in the evaluation of patients suspected of having chromosomal disorders. However, it is best used as an adjunct to chromosomal analysis when a clear genetic diagnosis is unavailable. (c) 2007 Wiley-Liss, Inc.
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Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, EnglandUniv London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Aitman, TJ
Dong, R
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Dong, R
Vyse, TJ
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Vyse, TJ
Norsworthy, PJ
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Norsworthy, PJ
Johnson, MD
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Johnson, MD
Smith, J
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Smith, J
Mangion, J
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Mangion, J
Roberton-Lowe, C
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Roberton-Lowe, C
Marshall, AJ
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Marshall, AJ
Petretto, E
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Petretto, E
Hodges, MD
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Hodges, MD
Bhangal, G
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Bhangal, G
Patel, SG
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Patel, SG
Sheehan-Rooney, K
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Sheehan-Rooney, K
Duda, M
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Duda, M
Cook, PR
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Cook, PR
Evans, DJ
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Evans, DJ
Domin, J
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Domin, J
Flint, J
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Flint, J
Boyle, JJ
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Boyle, JJ
Pusey, CD
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Pusey, CD
Cook, HT
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
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Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, EnglandUniv London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Aitman, TJ
Dong, R
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Dong, R
Vyse, TJ
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Vyse, TJ
Norsworthy, PJ
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Norsworthy, PJ
Johnson, MD
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Johnson, MD
Smith, J
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Smith, J
Mangion, J
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Mangion, J
Roberton-Lowe, C
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Roberton-Lowe, C
Marshall, AJ
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Marshall, AJ
Petretto, E
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Petretto, E
Hodges, MD
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Hodges, MD
Bhangal, G
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Bhangal, G
Patel, SG
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Patel, SG
Sheehan-Rooney, K
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Sheehan-Rooney, K
Duda, M
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Duda, M
Cook, PR
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Cook, PR
Evans, DJ
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Evans, DJ
Domin, J
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Domin, J
Flint, J
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Flint, J
Boyle, JJ
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Boyle, JJ
Pusey, CD
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England
Pusey, CD
Cook, HT
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机构:Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, Physiol Genom & Med Grp, London W12 0NN, England