Title: A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications
Authors: Thienpont, Bernard ×
Breckpot, Jeroen
Vermeesch, Joris
Gewillig, Marc
Devriendt, Koenraad #
Issue Date: May-2008
Series Title: European Journal of Medical Genetics vol:51 issue:3 pages:219-225
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".
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Pediatric Cardiology Section (-)
Cardiovascular Developmental Biology
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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