Familial distal monosomy 3p26.3‐pter with trisomy 4q32.2‐qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features

We present a boy diagnosed with partial 3p monosomy and partial 4q trisomy. The patient was 9 years of age with intellectual disability, dysmorphic features, and ataxia. A family history and medical evaluation showed that the father manifested similar facial dysmorphic features, intellectual disabil...

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