Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

A whole-genome oligonucleotide-based array comparative genomic hybridization (aCGH) method is used to identify a previously undescribed syndrome characterized by recurrent duplications of Xp11.22-p11.23 chromosomes associated with mental retardation, speech delay, and EEG anomalies in males and females. Research reveals that most of the rearrangements are mediated by recombinations between adjacent complex segmental duplications.