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

作者：Thienpont Bernard; Breckpot Jeroen; Vermeesch Joris R; Gewillig Marc; Devriendt Koen^*

来源：European Journal of Medical Genetics, 2008, 51(3): 219-225.

DOI：10.1016/j.ejmg.2007.12.009

• array-CGH
• complex intrachromosomal rearrangement
• 19p13.11
• duplication
• triplication
• ventricular septal defect
• microcephaly
• mental retardation

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".

• 出版日期2008-6