Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

被引：432

作者：

Manning, Melanie ^{[1
]}

Hudgins, Louanne

机构：

[1] Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA

来源：

GENETICS IN MEDICINE | 2010年 / 12卷 / 11期

关键词：

array comparative genomic hybridization; malformations; development disabilities; autism; cytogenetics; COMPARATIVE GENOMIC HYBRIDIZATION; COPY-NUMBER VARIATION; MENTAL-RETARDATION; DEVELOPMENTAL DELAY; INTELLECTUAL DISABILITY; CONGENITAL-ANOMALIES; MICROARRAY ANALYSIS; CLINICAL UTILITY; CGH; INDIVIDUALS;

D O I：

10.1097/GIM.0b013e3181f8baad

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient's genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity. A variety of array-based platforms are now available for use in clinical practice, and utilization strategies are evolving. Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study. Genet Med 2010:12(11):742-745.

引用

页码：742 / 745

页数：4

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