High-resolution karyotyping by oligonucleotide microarrays : the next revolution in cytogenetics

Although there are no cases described of partial triplication of this region before, it would be logical to compare the clinical phenotype of our patient with cases

The brother of the index patient inherited the derivative chromosome 3 resulting in a 3 Mb deletion of the terminal part of the short arm of chromosome 3 and a 5

Slavotinek 2008).Yet, the association between CNVs and BPES-like phenotypes has not been investigated. We performed whole-genome high-density arrays in the group of 27

Secondly, BRWD3 is another gene possibly related to our patient’s phenotype, because loss of function mutations were identified in four male patients with X-linked mental

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic

De array gebaseerde techniek wordt tegenwoordig wereldwijd gebruikt voor het opsporen van varianten in kopieaantal bij patiënten met mentale retardatie en vervangt

Peter bedankt voor het kritisch lezen en aanpassen van mijn laatste stukken voor dit proefschrift. Alle collega’s van het LDGA, bedankt voor al jullie hulp

(b) SNP array analysis (Affymetrix GeneChip Human Mapping 262K NspI) results for the index patient demonstrating a 3 Mb duplication on the short arm of chromosome 3 and a 5