A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications.
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".
Thienpont
Bernard
B
Center for Human Genetics, Catholic University of Leuven, Herestraat 49, B-3000 Leuven, Belgium.
Breckpot
Jeroen
J
Vermeesch
Joris R
JR
Gewillig
Marc
M
Devriendt
Koen
K
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
D017931:DNA Primers