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Interstitial microduplication 12q13.2–q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf–Hirschhorn syndrome

Introduction Interstitial microduplication of 12q13 has been reported previously in only one patient, a girl who presented as a phenocopy of Wolf–Hirschhorn syndrome (Dallapiccola et al., 2009). Here, we present a boy with a smaller duplication of 12q13.2–q13.3, involving a chromosomal region within the duplication previously described, and a phenotype distinct from that of Wolf–Hirschhorn syndrome.