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Eur J Med Genet. 2008 May-Jun;51(3):219-25. doi: 10.1016/j.ejmg.2007.12.009. Epub 2008 Jan 9.

A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications.

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1
Center for Human Genetics, Catholic University of Leuven, Herestraat 49, B-3000 Leuven, Belgium.

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".

PMID:
18282819
DOI:
10.1016/j.ejmg.2007.12.009
[Indexed for MEDLINE]
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