16q duplication syndrome

Two new reported cases of 16q22.3q23.3 duplication syndrome and intrafamilial variability. The authors report a 15-year-old male with developmental delay, attention deficit disorder, autism, dysmorphic features (midface hypoplasia, prognathism), absence seizures, leg discrepancy (left leg being shorter than the right one) leading to scoliosis, and polymicrogyria. As a child he... Read More