A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

Mariken Ruiter, David A. Koolen, Rolph Pfundt, Nicole De Leeuw, Harry M.J. Klinkers, Erik A. Sistermans, Joris A. Veltman, Bert B.A. De Vries

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)


We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.

Original languageEnglish
Pages (from-to)133-137
Number of pages5
JournalClinical Dysmorphology
Issue number3
Publication statusPublished - 1 Jul 2006


  • Array comparative genomic hybridization
  • Mental retardation
  • Microduplication
  • Molecular cytogenetics
  • Nitric oxide synthase 1
  • Replication factor C5
  • Thyroid hormone receptor associated protein 2

Cite this