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

OpenAlex İngilizce

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. To our knowledge, this is the first report of 6q26-q27 chromosome microdeletion in Turkey. In this article, we determine the clinical and genomic characteristics of a 2-year-old female case of 6q26-q27 chromosome microdeletion by investigating the level of development of the patient, brain malformations and dysmorphic characteristics, and ultimately comparing them to other cases reported in literature. Our patient was diagnosed with severe Global Developmental Delays (GDD). Although our case had similar clinical characteristics to corresponding cases in literature, there is a difference in the variety and group of symptoms exhibited.