Autism spectrum disorder and 3p24.3p23 triplication: a case report.

ABSTRACT:

Background

The role of copy number variants as genomic mutations causative of neurodevelopmental disorders has been recently established. They can act as risk factors of conditions with multifactorial etiopathogenesis and incomplete penetrance, such as nonsyndromic autism, and, in this case, are often inherited from an unaffected parent. Conversely, dominant syndromes, with high penetrance, can be caused by de novo occurring variants.

Case presentation

We describe the clinical case, with a detailed characterization of the neuropsychiatric profile, of an almost 3-year-old white (Italian) male child with autism spectrum disorder, developmental delay, mild dysmorphic traits, and congenital anomalies (cardiac septal defects, gliotic changes, thinned corpus callosum, and arachnoi

SUBMITTER: Siracusano M 

PROVIDER: S-EPMC11895343 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature