3q29 Interstitial microduplication: A new syndrome in a three-generation family

Emily C. Lisi, Ada Hamosh, Kimberly F. Doheny, Elizabeth Squibb, Barbara Jackson, Rebecca Galczynski, George H. Thomas, Denise A.S. Batista

Research output: Contribution to journalArticlepeer-review

57 Scopus citations


Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high-resolution chromosome analysis, array CGH and SNP technologies we identified a novel genomic syndrome comprising of an interstitial duplication of approximately 1.61 Mb at the distal end of chromosome 3 band q29. The imbalance was present in five individuals in a three generation family with clinical features including mild to moderate mental retardation and microcephaly. The duplicated segment overlaps with and is the genomic counterpart of the recently described microdeletion of 3q29. Both syndromes are proposed to occur by nonallelic homologous recombination between regions of low copy repeats present around the breakpoints.

Original languageEnglish (US)
Pages (from-to)601-609
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Issue number5
StatePublished - Mar 1 2008


  • Array CGH
  • Deletion 3q29
  • Duplication 3q29
  • Mental retardation
  • Microcephaly
  • SNP

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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