A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

L Roos, A E Jønch, S Kjaergaard, K Taudorf, H Simonsen, B Hamborg-Petersen, K Brøndum-Nielsen, M Kirchhoff

60 Citations (Scopus)


BACKGROUND: The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and some that await further delineation. This report describes three children with de novo 17p13.1 duplications encompassing the PAFAH1B1 gene, who had similar phenotypic features, including mild to moderate developmental delay, hypotonia and facial dysmorphism, and compares them to the few previously reported cases with this duplication. METHODS: Multiplex ligation-dependent probe amplification (MLPA) or array-CGH was used to diagnose three developmentally delayed children with duplications of 17p13. The duplications were characterised further using Agilent array technology, revealing duplication sizes from 1.8 to 4.0 Mb, with a region of overlap corresponding to 1.8 Mb. Detailed clinical information was obtained from patient files and personal examinations. RESULTS: The developmental delay and similar clinical features in the three patients were most likely due to a common microduplication of 17p13. CONCLUSIONS: In contrast to patients with deletion of the region (Miller-Dieker syndrome) the patients reported here had mild to moderate retardation and displayed no lissencephaly or gross brain malformations. Further cases with similar duplications are expected to be diagnosed, and will contribute to the delineation of a potential new microduplication syndrome of 17p13.
Original languageEnglish
JournalJournal of Medical Genetics
Issue number10
Pages (from-to)703-10
Number of pages7
Publication statusPublished - 2009


  • 1-Alkyl-2-acetylglycerophosphocholine Esterase
  • Adolescent
  • Child, Preschool
  • Chromosomes, Human, Pair 17
  • Classical Lissencephalies and Subcortical Band Heterotopias
  • Developmental Disabilities
  • Facial Bones
  • Female
  • Gene Duplication
  • Humans
  • Infant
  • Male
  • Microtubule-Associated Proteins
  • Muscle Hypotonia
  • Syndrome


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