Novel 10q21.1-q22.1 Duplication in a Boy with Minor Facial Dysmorphism, Mild Intellectual Disability, Autism Spectrum Disorder-Like Phenotype, and Short Stature.

Introduction: Duplications reported in 10q21-q22 include borderline to moderate intellectual disability, growth retardation, autism, attention deficit hyperactivity disorder, and minor craniofacial dysmorphism.

Case presentation: We present a patient with a novel 14.7-Mb de novo interstitial duplication at 10q21.1-q22.1 delineated by a high-definition (HD) single nucleotide polymorphism (SNP) array. The boy had minor facial dysmorphism, mild intellectual disability, an autism spectrum disorder-like phenotype, and short stature.

Conclusion: This is the first case in which a novel 10q21.1-q22.1 duplication was detected by the HD SNP array, expanding the spectrum of duplications seen in 10q21-q22. This report provides a detailed clinical examination of a patient with a 10q21.1-q22.1 duplication and suggests that brain development and cognitive function may be affected by an increased dosage sensitivity of the involved JMJD1C and EGR2 genes. This case contributes to the understanding of the genotype-phenotype relationship for genetic counseling and provides further evidence for the identification of a novel microduplication syndrome in 10q21-q22.