Diagnostic utility of array-based comparative genomic hybridization in a clinical setting

被引:30
作者
Baris, Hagit N.
Tan, Wen-Hann
Kimonis, Virginia E.
Irons, Mira B.
机构
[1] Childrens Hosp, Div Genet, Boston, MA 02115 USA
[2] Harvard Univ, Sch Med, Boston, MA USA
[3] Univ Calif Irvine, Med Ctr, Dept Pediat, Div Genet & Metab, Orange, CA USA
关键词
chromosome aberrations; chromosome disorders; gene dosage; gene duplication; gene deletion; microarray comparative genomic hybridization; copy number variations; IDIOPATHIC MENTAL-RETARDATION; CHROMOSOMAL IMBALANCE; DEVELOPMENTAL DELAY; CGH; DUPLICATIONS; INDIVIDUALS; MICROARRAY; MOSAICISM; DELETIONS; CHILDREN;
D O I
10.1002/ajmg.a.31988
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:2523 / 2533
页数:11
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