Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability

TÜRKYILMAZ A., GEÇKİNLİ B. B., Tekin E., Ates E. A., Yarali O., ÇEBİ A. H., ...Daha Fazla

BALKAN JOURNAL OF MEDICAL GENETICS, cilt.24, sa.2, ss.15-24, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 2
  • Basım Tarihi: 2021
  • Doi Numarası: 10.2478/bjmg-2021-0020
  • Dergi Adı: BALKAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.15-24
  • Anahtar Kelimeler: Array-based comparative genomic hybridization (aCGH), Copy number variations (CNV), Developmental delay, Dysmorphic facial features, Genotype-phenotype correlation, Intellectual disability, QUALITY-STANDARDS-SUBCOMMITTEE, INTELLECTUAL DISABILITY, PRACTICE-COMMITTEE, AMERICAN-ACADEMY, DUPLICATION, DELAY, MICRODELETION, MICRODUPLICATION, MICROARRAY, NEUROLOGY
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

Developmental delay (DD) is a condition wherein developmental milestones and learning skills do not occur at the expected age range for patients under 5 years of age. Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and cause-effect relationships. Isolated and syndromic DD/ID cases show extreme genetic heterogeneity. Array-based comparative genomic hybridization aCGH) can detect copy number variations (CNVs) on the whole genome at higher resolution than conventional cytogenetic methods. The diagnostic yield of aCGH was 15.0-20.0% in DD/ID cases. The aim of this study was to discuss the clinical findings and aCGH analysis results of isolated and syndromic DD/ID cases in the context of genotype-phenotype correlation. The study included 139 cases (77 females, 62 males). Data analysis revealed 38 different CNVs in 35 cases. In this study, 19 cases with pathogenic CNVs (13.6%) and five cases with likely pathogenic CNVs (3.5%) were found in a total of 139 cases diagnosed with DD/ID. When all pathogenic and likely pathogenic cases were evaluated, the diagnosis rate was 17.1%. The use of aCGH analysis as a first-tier test in DD/ID cases contributes significantly to the diagnosis rates and enables the detection of rare microdeletion/microduplication syndromes. The clear determination of genetic etiology contributes to the literature in terms of genotype-phenotype correlation.