title: 3q29 interstitial microduplication: a new syndrome in a three-generation family.
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.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA.
authors.forename: Emily C
authors.initials: EC
authors.lastname: Lisi
authors.forename: Ada
authors.initials: A
authors.lastname: Hamosh
authors.forename: Kimberly F
authors.initials: KF
authors.lastname: Doheny
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Squibb
authors.forename: Barbara
authors.initials: B
authors.lastname: Jackson
authors.forename: Rebecca
authors.initials: R
authors.lastname: Galczynski
authors.forename: George H
authors.initials: GH
authors.lastname: Thomas
authors.forename: Denise A S
authors.initials: DA
authors.lastname: Batista
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D005190:Family; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome