title: Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies.
abstract: Constitutional Complex Chromosomal Rearrangements (CCRs) are very rare. While the vast majority of CCRs involve more than one chromosome, only seven cases describe CCRs with four or more breakpoints within a single chromosome. Here, we present a patient with multiple congenital anomalies and mental retardation. Array Comparative Genomic Hybridisation (array CGH), FISH and Multicolour Banding FISH revealed a de novo complex rearrangement with two deletions, a duplication and an inversion of 4q. This CCR involving at least seven breakpoints is one of the most complex rearrangements of a single chromosome reported thus far. Potential mechanisms generating such complex rearrangements are discussed.
authors.affiliation: Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.
authors.forename: B
authors.initials: B
authors.lastname: Thienpont
authors.forename: M
authors.initials: M
authors.lastname: Gewillig
authors.forename: J-P
authors.initials: JP
authors.lastname: Fryns
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: J
authors.initials: J
authors.lastname: Vermeesch
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D002658:Developmental Disabilities / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male