The Effects of 6q26-q27 Terminal Deletion on Intellectual Disability & Brain Malformations and the Genotype/Phenotype Relationship: A Case Report

Ozdag V., Tanir Y.

NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY, cilt.59, sa.3, ss.242-245, 2022 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 3
  • Basım Tarihi: 2022
  • Doi Numarası: 10.29399/npa.27797
  • Dergi Adı: NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, Psycinfo, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.242-245
  • Anahtar Kelimeler: 6q26-q27 microdeletion, intellectual disability, global developmental delay, COPY NUMBER VARIATION, DEVELOPMENTAL DELAY, 6Q, GENE
  • İstanbul Üniversitesi Adresli: Evet

Özet

Terminal microdeletion of chromosome 6q is a rare syndrome that can result in a spectrum of phenotypes varying from normal intelligence-minimal clinical symptoms to severe neurological defects and developmental delays. The most frequent clinical characteristics include developmental delays prior to and following birth as well as intellectual disability, brain malformations, and facial dysmorphism. These clinical characteristics may not be correlated with the size of the deletion; as many cases have been identified with either minor or major deletions, the genotype-phenotype correlation should be better investigated.