Evolving applications of microarray technology in postnatal diagnosis (review).

作者: JI UN KANG , SUN HOE KOO

DOI: 10.3892/IJMM.2012.988

关键词:

摘要: Microarray-based cytogenetics is revealing the tremendous fluidity and complexity of human genome, starting to illustrate implications genomic variability with respect health disease. In last few years, robustness array-based technologies has provided accurate diagnosis appropriate clinical management in a timely efficient manner for identifying defects congenital developmental abnormalities including delay (DD), intellectual disability (ID), autism spectrum disorders (ASD) and/or multiple anomalies (MCA). The implementation this technology these categories been thoroughly evaluated now recommended as first-line diagnostic approach clinically suspected genetic disorders. However, application array-CGH postnatal evaluation raises debate whether will replace traditional near future there still role karyotyping FISH. article, we therefore review current status use predict that it standard test population groups.

参考文章(25)
SC Hillman, Samantha Pretlove, Aravinthan Coomarasamy, DJ McMullan, EV Davison, ER Maher, MD Kilby, None, Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis Ultrasound in Obstetrics & Gynecology. ,vol. 37, pp. 6- 14 ,(2011) , 10.1002/UOG.7754
Bassem A. Bejjani, Lisa G. Shaffer, Application of array-based comparative genomic hybridization to clinical diagnostics. The Journal of Molecular Diagnostics. ,vol. 8, pp. 528- 533 ,(2006) , 10.2353/JMOLDX.2006.060029
L.G. Shaffer, B.A. Bejjani, Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenetic and Genome Research. ,vol. 115, pp. 303- 309 ,(2006) , 10.1159/000095928
The-Hung Bui, Annalisa Vetro, Orsetta Zuffardi, Lisa G. Shaffer, Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? Prenatal Diagnosis. ,vol. 31, pp. 235- 243 ,(2011) , 10.1002/PD.2722
Gurdeep S Sagoo, Adam S Butterworth, Simon Sanderson, Charles Shaw-Smith, Julian P T Higgins, Hilary Burton, Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects Genetics in Medicine. ,vol. 11, pp. 139- 146 ,(2009) , 10.1097/GIM.0B013E318194EE8F
Pawel Stankiewicz, Arthur L Beaudet, Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation Current Opinion in Genetics & Development. ,vol. 17, pp. 182- 192 ,(2007) , 10.1016/J.GDE.2007.04.009
Michael R. Speicher, Nigel P. Carter, The new cytogenetics: blurring the boundaries with molecular biology. Nature Reviews Genetics. ,vol. 6, pp. 782- 792 ,(2005) , 10.1038/NRG1692
Bhavana J. Dave, Warren G. Sanger, Role of cytogenetics and molecular cytogenetics in the diagnosis of genetic imbalances. Seminars in Pediatric Neurology. ,vol. 14, pp. 2- 6 ,(2007) , 10.1016/J.SPEN.2006.11.003
Jaroslaw P. Maciejewski, Ghulam J. Mufti, Whole genome scanning as a cytogenetic tool in hematologic malignancies. Blood. ,vol. 112, pp. 965- 974 ,(2008) , 10.1182/BLOOD-2008-02-130435
Holger Tönnies, Modern molecular cytogenetic techniques in genetic diagnostics Trends in Molecular Medicine. ,vol. 8, pp. 246- 250 ,(2002) , 10.1016/S1471-4914(02)02335-3