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

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

GAZI MEDICAL JOURNAL, cilt.30, sa.4, ss.361-364, 2019 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 4
  • Basım Tarihi: 2019
  • Doi Numarası: 10.12996/gmj.2019.93
  • Dergi Adı: GAZI MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.361-364
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.