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

Abstract excerpt

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...

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