Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies ...(e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages
Disruption of the atp8a2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.... One of the strategies used to identify new causative genes is to take advantage of balanced chromosomal rearrangements in affected patients....
Failure to find dup25 in patients with anxiety disorders, in control individuals, or in previously reported positive control cell lines... In the present study, we replicated the experimental conditions described by Gratacòs and colleagues in which fluorescence in situ hybridization was used to examine metaphase chromosomes of patients with panic disorder/social phobia and of control individuals from a southern region of the United Kingdom, the primary aim being to determine the prevalence of this chromosomal rearrangement in a geographically and ethnically distinct population....
