Clinical Genetic Approach to De Novo Changes Identified in Array-CGH Analysis

Kumbasar G., Toksoy G., Basaran S., Karaman B.

GAZI MEDICAL JOURNAL, vol.30, no.4, pp.361-364, 2019 (ESCI, Scopus) identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 4
  • Publication Date: 2019
  • Doi Number: 10.12996/gmj.2019.93
  • Journal Name: GAZI MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.361-364
  • Istanbul University Affiliated: Yes

Abstract

Objective: In this study, it is planned to work with fluorescent in situ hybridization (FISH), quantitative polymerase chain reaction (Real-Time qPCR) or with another a-CGH platform to verify genomic imbalances detected in a-CGH examination. It is aimed to determine whether the change is clinically relevant, so that genotype-phenotype relationship can be established and contribute effective genetic counseling.