Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication

Eur J Med Genet. 2016 Apr;59(4):210-4. doi: 10.1016/j.ejmg.2016.02.005. Epub 2016 Feb 9.


A 16p13.3 duplication syndrome has been recently suggested to be a novel recognizable syndrome as a reciprocal microduplication disease of Rubinstein-Taybi syndrome. The CREBBP gene is believed to be the dosage-sensitive critical gene responsible for the reciprocal duplication and deletion syndrome. Descriptions so far have been de novo. Here, we report a very rare case of a maternally inherited a -1 Mb sized duplication on 16p13.3 identified by SNP array testing. The patient showed moderate intellectual disability, normal growth, and characteristic facial features. The patient's mother also had mild intellectual disability, normal growth, camptodactyly, proximally implanted small thumbs, and distinctive facial features. The study provides additional information that furthers the understanding and delineation of 16p13.3 duplication syndrome.

Keywords: Autosomal dominant; CREBBP; Chromosome 16p13.3 duplication syndrome; Intellectual disability; Maternal inheritance.

Publication types

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

MeSH terms

  • CREB-Binding Protein / genetics*
  • Child
  • Chromosome Duplication / genetics*
  • Chromosomes, Human, Pair 16 / genetics
  • Gene Dosage
  • Hand Deformities, Congenital / genetics*
  • Hand Deformities, Congenital / physiopathology
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Maternal Inheritance
  • Phenotype
  • Rubinstein-Taybi Syndrome / genetics*
  • Rubinstein-Taybi Syndrome / physiopathology
  • Sequence Deletion / genetics


  • CREB-Binding Protein
  • CREBBP protein, human