TSHZ1 and Down syndrome: Array-CGH analysis revealed one of the smallest 18q22.3q23 interstitial deletions involving five genes: <i>TSHZ1</i>, <i>ZNF516</i>, <i>ZNF236, MBP,</i> and <i>GALR1</i>.<h4>Conclusions</h4>Herein we focus on previously unreported heralding symptoms and neuroradiological abnormalities which enlarge the spectrum of 18q deletion syndrome demonstrating that a small deletion can determine a complex phenotype.