Summary
We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32→5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature.
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Rethoré, M.O., de Blois, M.C., Peeters, M. et al. Pure partial trisomy of the short arm of chromosome 5. Hum Genet 82, 296–298 (1989). https://doi.org/10.1007/BF00291177
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DOI: https://doi.org/10.1007/BF00291177