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BACKGROUND Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16. METHODS AND RESULTS A bacterial artificial chromosome (BAC) array comparative genome hybridisation (CGH) screen of 1027 patients with mental(More)
We describe the identification and delineation of an inherited 2.07 Mb microduplication in 1q42.2 in two brothers with autism and mild mental retardation. Since this duplication was not present in 1577 Belgian persons, we consider this as an extremely rare variant which has the potential to provide further insight into the genetics of autism. The(More)
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated(More)
First trimester spontaneous abortions occur in 15 to 20% of all clinically recognized pregnancies. Chromosomal -anomalies are responsible for more than 50% of spontaneous abortions. The majority (90%) of these chromosomal anomalies are numerical, particularly autosomal trisomies (involving chromosomes 13,16, 18, 21, 22), polyploidy and monosomy X. At birth(More)
W e report four sibs, two males and two females, with severe and early onset asymmetrical intrauterine growth retardation (IUGR) with a disproportionally large head and a fetal akinesia deformation sequence. Neuro-muscular studies were normal in the four sibs. Variable acral malformations (bilateral cleft hand in one male, proximal syndactyly of the toes(More)
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