The common constellation of features found in the two affected subjects indicates that they have a newly recognised microdeletion syndrome involving haploinsufficiency of one or more genes deleted within at least a 4.5-Mb segment of the 2p15-16.1 region.

Ascarididae nematodes of genera Toxocara and Toxascaris are of significant epizootic relevance among predatory mammals from families Canidae and Felidae. Localization of these nematodes in the definitive hosts, their morphology, as well as the measurements of eggs and adult worms are similar. Recently, molecular techniques have provided alternative approaches for the identification of ascarid species. A common feature of the life cycles of these generally monoxenous nematodes is the significant participation of small rodents. In case of Toxocara spp., the rodent plays the role of paratenic host but optional intermediate host for T. leonina. Several studies indicate co-occurence of both T. canis and T. leonina in domestic and wild canids as well as T. cati and T. leonina in felids. Although the infections of humans with T. canis and T. cati are common worldwide, larvae of T. leonina has the potential to cause human disease as emerging zoonosis.

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Higher resolution whole-genome arrays facilitate the identification of smaller copy number variations (CNVs) and their integral genes contributing to autism and/or intellectual disability (ASD/ID). Our study describes the use of one of the highest resolution arrays, the Affymetrix(®) Cytogenetics 2.7M array, coupled with quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments (QMPSF) for detection and validation of small CNVs. We studied 82 subjects with ASD and ID in total (30 in the validation and 52 in the application cohort) and detected putatively pathogenic CNVs in 6/52 cases from the application cohort. This included a 130-kb maternal duplication spanning exons 64-79 of the DMD gene which was found in a 3-year-old boy manifesting autism and mild neuromotor delays. Other pathogenic CNVs involved 4p14, 12q24.31, 14q32.31, 15q13.2-13.3, and 17p13.3. We established the optimal experimental conditions which, when applied to select small CNVs for QMPSF confirmation, reduced the false positive rate from 60% to 25%. Our work suggests that selection of small CNVs based on the function of integral genes, followed by review of array experimental parameters resulting in highest confirmation rate using multiplex PCR, may enhance the usefulness of higher resolution platforms for ASD and ID gene discovery.