Chromosome 16p11 duplications

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I recently saw a child 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 chromosome 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 for prenatal genetic counseling, and is a good reminder that past diagnostic data in a patient always deserves a second look!

Hilary Vernon, MD PhD

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