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, vol.59, no.3, pp.242-245, 2022 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.29399/npa.27797
  • Journal Name: NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, Psycinfo, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.242-245
  • Keywords: 6q26-q27 microdeletion, intellectual disability, global developmental delay, COPY NUMBER VARIATION, DEVELOPMENTAL DELAY, 6Q, GENE
  • Istanbul University Affiliated: Yes

Abstract

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.