Viv K. Maloney

TL;DR: Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.

TL;DR: The findings broaden the phenotypic spectrum associated with 15q13.3 deletions and suggest that, in some individuals, deletion of 15q 13.3 is not sufficient to cause disease.

TL;DR: The results show that translocations in phenotypically abnormal patients are molecularly distinct from those in normal individuals: the former are more likely to be associated with genomic imbalances at the breakpoints or elsewhere and with chromosomal complexity, whereas the frequency of gene disruption is similar in both normal and abnormal translocation carriers.

TL;DR: It is concluded that the 8p23.1 duplication syndrome is a genomic condition with an emerging but variable phenotype that may be under-diagnosed and illustrates the power of array CGH to reveal unexpected additional imbalances in affected patients.

TL;DR: An interchromosomal insertion between a normal and polymorphically inverted chromosome 8 is proposed to explain the origin of this duplication ascertained in a child with speech delay and a diagnosis of ICD-10 autism and found in his mother who had epilepsy and learning problems.