I recently saw a childÂ with autism, obsessive compulsive disorder, and anxiety, but who was non-dysmorphic and otherwise healthy. A karyotype from several years ago noted a euchromatic variant at chromosomeÂ 16p11, but a reinterpretation of this region has allowed us to diagnose this child with the chromosome 16p11 duplication syndrome. The 16p11.2-p12.2 duplication syndrome is associated with a variable phenotype which can include intellectual disability, autism, obsessive compulsive behaviors, and several dysmorphisms (Barber et al. Eur J Hum Genet 2012 Jul 25.). The reinterpretation of this karyotype was especially important to this family due to the implications forÂ prenatal geneticÂ counseling, and is a good reminder thatÂ pastÂ diagnostic data in a patientÂ always deserves a second look!
Hilary Vernon, MD PhD