Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations

J Med Genet. 1998 Apr;35(4):319-22. doi: 10.1136/jmg.35.4.319.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Aged
  • Chromosomes, Human, Pair 2*
  • Diabetes Mellitus, Type 1 / genetics
  • Female
  • Humans
  • Mutagenesis, Insertional*
  • Paranoid Disorders / genetics
  • Psychotic Disorders / genetics
  • Trisomy*