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Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.
  1. R S Houlston,
  2. R M Renshaw,
  3. R S James,
  4. R Ironton,
  5. I K Temple
  1. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.


    We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced translocation resulting in partial trisomy for 16q and partial monosomy for 15q (46,XX, -15, tder(15)t(15;16)(q26.1;q22). The consequences of partial aneuploidy of 16q are discussed.

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