Introduction: Interstitial deletions of the long arm of chromosome 14q (OMIM 613457) are very rare conditions.
Case presentation: We present a 3-month-old male patient with dysmorphic features and congenital heart defect associated with a small interstitial deletion of chromosome 14q, identified by cytogenetic analysis as 46,XY,del(14)(q11q12). Dysmorphic features included microcephaly, broad nasal bridge, micrognathia, large and poorly folded auricular lobes and long digits. He also present rectus abdominis diastasis and umbilical hernia. The cranial computer tomography showed partial agenesis of the corpus callosum and ventriculomegaly.
Conclusions: Cytogenetic analysis or molecular techniques are necessary to establish the correct diagnosis in patients with multiple congenital anomalies in association with proximal or distal interstitial 14q deletion.