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Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.
  1. I A Glass,
  2. P Stormer,
  3. P T Oei,
  4. E Hacking,
  5. P D Cotter
  1. Queensland Clinical Genetics Service, Herston, Australia.


    In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy.

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