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Updated: Jan 31, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide
Roberta Bottega1, Stefania Cappellani1, Antonella Fabretto1
1Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Abstract:
In this paper, is reported the identification of two chimeric patients, a rare finding if sexual abnormalities are absent. However, their chimeric condition is responsible at least for the Silver-Russell phenotype observed in one of the two patients. By single nucleotide polymorphism-array analyses, it was possible to clearly define the mechanism responsible for this unusual finding, underlining the importance of this technique in bringing out the perhaps submerged world of chimeras.
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