Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies


Ozyilmaz B., Kirbiyik O., Koc A., Ozdemir T. R., Kaya O. O., Guvenc M. S., ...More

CLINICAL GENETICS, vol.92, no.4, pp.372-379, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 92 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.1111/cge.12978
  • Journal Name: CLINICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.372-379
  • Keywords: CNV, microarray, microdeletion, microduplication, optima, pathogenic, Turkish, VOUS, ZNF107, HUMAN GENOME, NUMBER, MAP
  • Dokuz Eylül University Affiliated: No

Abstract

BackgroundChromosomal microarray analysis is the first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples.