Microdeletion syndromes

Gemma L. Carvill, Heather C. Mefford*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

33 Scopus citations


The recent explosion in the implementation of genome-wide microarray technology to discover rare, pathogenic genomic rearrangements in a variety of diseases has led to the discovery of numerous microdeletion syndromes. It is now clear that these microdeletions are associated with extensive phenotypic heterogeneity and incomplete penetrance. A subset of recurrent microdeletions underpin diverse phenotypes, including intellectual disability, autism, epilepsy and neuropsychiatric disorders. Recent studies highlight a role for additional low frequency variants, or 'second hits' to account for this variability. The implementation of massively parallel sequencing and epigenetic models may provide a powerful prospective approach to the delineation of microdeletion syndrome phenotypes.

Original languageEnglish (US)
Pages (from-to)232-239
Number of pages8
JournalCurrent Opinion in Genetics and Development
Issue number3
StatePublished - Jun 2013

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology


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