In conclusion, although this is a single case and analyses of additional patients are needed, we have shown that array CGH performed on buccal swab DNA is an easy and sensitive technique for detecting i(12p) that can be used as an initial test to diagnose PKS. Array CGH has many advantages over other techniques such as FISH or droplet PCR [9]. A single experiment provides not only an indication of the mosaic ratio but also precise information regarding the genetic composition of the isochromosome.
Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome
Orsini A;Peroni D;
2019-01-01
Abstract
In conclusion, although this is a single case and analyses of additional patients are needed, we have shown that array CGH performed on buccal swab DNA is an easy and sensitive technique for detecting i(12p) that can be used as an initial test to diagnose PKS. Array CGH has many advantages over other techniques such as FISH or droplet PCR [9]. A single experiment provides not only an indication of the mosaic ratio but also precise information regarding the genetic composition of the isochromosome.File in questo prodotto:
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