Literature DB >> 22325475

Solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey.

Amelia R Mroch1, Jason D Flanagan, Quinn P Stein.   

Abstract

We review 3 cases where array comparative genomic hybridization made a difference in the medical management of the patient, ended the diagnostic odyssey, predicted prognosis for the patient, and/or provided closure to the family. Comparative genomic hybridization is a useful tool for testing individuals with clinical examinations suggestive of a genetic syndrome but in which a specific syndrome may be difficult to pinpoint. The cost is similar to that of a standard karyotype but there is a higher yield in children and adults with clinical signs of a genetic syndrome.
Copyright © 2012 Mosby, Inc. All rights reserved.

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Year:  2012        PMID: 22325475     DOI: 10.1016/j.cppeds.2011.10.003

Source DB:  PubMed          Journal:  Curr Probl Pediatr Adolesc Health Care        ISSN: 1538-3199


  4 in total

Review 1.  Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress.

Authors:  Gholson J Lyon; Kai Wang
Journal:  Genome Med       Date:  2012-07-26       Impact factor: 11.117

2.  The clinical impact of chromosomal microarray on paediatric care in Hong Kong.

Authors:  Victoria Q Tao; Kelvin Y K Chan; Yoyo W Y Chu; Gary T K Mok; Tiong Y Tan; Wanling Yang; So Lun Lee; Wing Fai Tang; Winnie W Y Tso; Elizabeth T Lau; Anita S Y Kan; Mary H Tang; Yu-Lung Lau; Brian H Y Chung
Journal:  PLoS One       Date:  2014-10-15       Impact factor: 3.240

3.  Genetic Testing among Children in a Complex Care Program.

Authors:  Krista Oei; Robin Z Hayeems; Wendy J Ungar; Ronald D Cohn; Eyal Cohen
Journal:  Children (Basel)       Date:  2017-05-22

Review 4.  Genomic testing in pediatric epilepsy.

Authors:  Drew M Thodeson; Jason Y Park
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-08-01
  4 in total

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