Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases

ÇOKYAMAN T., SILAN F.

FETAL AND PEDIATRIC PATHOLOGY, cilt.41, sa.1, ss.68-76, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 41 Sayı: 1
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1080/15513815.2020.1764683
  • Dergi Adı: FETAL AND PEDIATRIC PATHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.68-76
  • Anahtar Kelimeler: array comparative genomic hybridization, intellectual disability, neurodevelopmental delay
  • Çanakkale Onsekiz Mart Üniversitesi Adresli: Evet

Özet

Introduction: We evaluated the contribution of array comparative genomic hybridization (aCGH) to the final diagnosis in children with neurocognitive disturbances or dysmorphic findings, but lacked a specific diagnosis. Materials and methods: Medical files of pediatric patients with neurocognitive disturbances who underwent aCGH analysis were reviewed retrospectively. Results: Of 155 patients, 77 copy number variations were detected and 50% (39/77) were considered causative. The aCGH's final diagnostic rate was 25.1% (39/155). Conclusion: With aCGH analysis, the diagnosis rate for patients with undiagnosed neurocognitive disturbances or dysmorphic syndrome may increase by 25-30%. If the phenotypic findings of the widely known neurocognitive disturbances cannot be identified during the initial clinical assessment, aCGH analysis may be beneficial.