Inverted distal duplication of the long arm of chromosome 8: borderline intelligence and discrete dysmorphic syndrome

Genet Couns. 1991;2(2):109-13.

Abstract

In this report, we describe an 11-years-old girl with inverted duplication in the distal part of the long arm of chromosome 8 (inv dup(8)(q24.11----q24.3). The most remarkable finding is her borderline intelligence and her nearly normal phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Chromosomes, Human, Pair 8*
  • Face / abnormalities*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Multigene Family / genetics*
  • Phenotype
  • Trisomy