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Contribution title 3272 - 22 months old boy diagnosed with 2q21.3 microdeletion syndrome comorbidity with autism spectrum disorder
Contribution code PS02-13 (P)
Authors
  1. Isik Gorker Presenter
  2. Engin Atli
  3. Hakan Gurkan
Form of presentation Poster
Topic
  • ASD
  • Neurogenetics
Abstract 2q23.1 microdeletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes, chromosome 2. In each person of this syndrome can have different medical and neurodevelopmental findings. Our case was 22 months old boy who applied with speech delay deficits and social-emotional reciprocity. In his psychiatric examination and evaluation, we diagnosed with autism spectrum disorder with atypical findings. In his genetic analysis, we detected the deletion in 2q21.3 chromosomal locus by using array-based comparative genomic hybridization. Our case will be discussed based on the literature.