Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.

@article{Burnside2009MolecularCC,
  title={Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.},
  author={Rachel D Burnside and Edward J Lose and Mar{\'i}a Garc{\'i}a Dom{\'i}nguez and Jos{\'e} S{\'a}nchez-Corona and Horacio Rivera and Andrew J. Carroll and Fady M Mikhail},
  journal={American journal of medical genetics. Part A},
  year={2009},
  volume={149A 7},
  pages={
          1516-22
        }
}
Here, we report two cases with isolated distal 11q rearrangement and multiple congenital anomalies. The first patient is a two-and-a-half year old male referred to our genetics clinic due to dysmorphic features and developmental delay including speech delay. Using conventional and molecular cytogenetic techniques, we demonstrate that he carries a recombinant chromosome with duplication of the 11q23.3q24.2 region resulting from an intrachromosomal insertion in the father. The second patient was… CONTINUE READING