Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis. Issue 3 (9th January 2019)

• Record Type: Journal Article
• Authors: Bottega, Roberta; Cappellani, Stefania; Fabretto, Antonella; Spinelli, Alessandro Mauro; Severini, Giovanni Maria; Aloisio, Michelangelo; Faleschini, Michela; Athanasakis, Emmanouil; Bruno, Irene; Faletra, Flavio; Pecile, Vanna
• Is Part Of: Molecular genetics & genomic medicine. Volume 7:Issue 3(2019)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2019-01-09
• Subjects: Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.546
• Languages: English
• ISSNs: 2324-9269

Abstract

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.