title: A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications.
abstract: Complex chromosomal rearrangements [CCRs] are considered very rare, but are being detected with an increasing frequency because of the enhanced resolution of novel molecular karyotyping techniques like array-CGH. This report describes a patient carrying a unique CCR involving one duplication and two triplications in a 3.2 Mb region on 19p13.11. The patient presented with microcephaly, velopharyngeal insufficiency, dysmorphism, mental retardation and a muscular ventricular septal defect. We show that CCRs are likely to be more frequent than hitherto appreciated. This has important consequences for genotype-phenotype correlations and warrants caution before labelling imbalances as "simple".
authors.affiliation: Center for Human Genetics, Catholic University of Leuven, Herestraat 49, B-3000 Leuven, Belgium.
authors.forename: Bernard
authors.initials: B
authors.lastname: Thienpont
authors.forename: Jeroen
authors.initials: J
authors.lastname: Breckpot
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: Marc
authors.initials: M
authors.lastname: Gewillig
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D002869:Chromosome Aberrations; D002888:Chromosomes, Human, Pair 19; D017931:DNA Primers; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping
chemical_list: D017931:DNA Primers