A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another

Eur J Med Genet. 2014 May-Jun;57(6):259-63. doi: 10.1016/j.ejmg.2014.02.016. Epub 2014 Mar 12.

Abstract

Here we report a case of two siblings with reciprocal aberrations, one presenting with a deletion and the other carrying two novel duplications at 6q13q16.1. Interestingly, both alterations were inherited from a healthy mother carrying a non-reciprocal translocation of 6q13q16 to 15q11. Deletions at 6q13q16.1 have been previously described; however this is the first characterisation of a 6q13q16.1 duplication. In this report we provide a comprehensive molecular and phenotypical characterisation of the affected siblings and discuss the profiles of previously identified patients carrying 6q deletions.

Keywords: 6q Deletion; 6q Duplication; Developmental delay; Intellectual disability.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Disorders / genetics
  • Chromosome Disorders / pathology
  • Chromosome Duplication*
  • Chromosomes, Human, Pair 15 / genetics*
  • Chromosomes, Human, Pair 16 / genetics*
  • DNA Copy Number Variations
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Male
  • Microarray Analysis / methods
  • Mothers
  • Phenotype
  • Siblings
  • Translocation, Genetic*