3q29 interstitial microduplication: a new syndrome in a three-generation family.

Title3q29 interstitial microduplication: a new syndrome in a three-generation family.
Publication TypeJournal Article
Year of Publication2008
AuthorsLisi EC, Hamosh A, Doheny KF, Squibb E, Jackson B, Galczynski R, Thomas GH, Batista DAS
JournalAmerican journal of medical genetics. Part A
Volume146A
Issue5
Pagination601-9
Date Published2008 Mar 1
Abstract

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 non-allelic homologous recombination between regions of low copy repeats present around the breakpoints.

DOI10.1523/JNEUROSCI.4512-07.2008
Alternate JournalAm. J. Med. Genet. A