Xin-Yu Zhou

A rare de novo contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review

This case expands the genomic spectrum of complex proximal 15q rearrangements and highlights the value of high-resolution genomic testing for resolving complex neurodevelopmental disorders, and emphasizes that severe genetic etiologies may be overlooked when developmental abnormalities are initially attributed to prema...