Diagnosis Of Microduplications

Microduplications in the form of SMCs can be identified by karyotyping followed by the identification of the chromosomal origin using FISH. However, interstitial microduplications are technically difficult to detect. Using FISH, a microdeletion can be detected as the absence of probe signal over the deleted chromosome. However, microduplications typically result in two superimposed signals, which are difficult to distinguish from a single signal. Confirmation of a microduplication usually requires analysis of FISH signals over high-resolution chromosomes or interphase nuclei. Commercial probes for microdeletion syndromes SMS and PWS/AS can be used to detect microduplications of these regions; however, no commercial probe is currently available for the CES-specific region. Other techniques such as microsatellite and dosage analysis are difficult to do in a clinical setting. The prevalence of both microduplications and microdeletions in individuals with developmental delay and/or congenital malformations may soon become clearer, as quantitative analysis of the whole genome via comparative genomic hybridization (CGH) arrays becomes clinically applicable (reviewed in Ref. [30]). In this technique, fluorescently labeled DNAs from a patient and a normal individual are competitively hybridized to CGH arrays containing genomic clones from various regions of the genome, allowing differences in copy number of these regions to be detected.

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Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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