Terminal deletion of 18q: A case report

Abstract

Introduction :The 18q syndrome is a chromosomal deletion that affects approximately 1:55,000 births. Its clinical manifestations include presentation and development abnormalities such as those related to intelligence, face, and movement. Method/Observation : We report the case of a girl with intellectual disability, psychomotor delay, dysmorphic features, and growth retardation. Chromosome analysis revealed a terminal deletion of chromosome 18. Our patient's phenotype reflects the heterogeneity of the clinical presentation of the 18q- syndrome. Conclusion: Despite all the studies aiming to investigate the relationship between phenotype and genotype of the 18q deletion, the role in the pathogenesis of a large part of the genes remains unknown. Keywords: 18q deletion syndrome, global developmental delay, facial dysmorphism, karyotype, Genotype-phenotype correlation.