Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis

Mol Genet Genomic Med. 2019 Mar;7(3):e546. doi: 10.1002/mgg3.546. Epub 2019 Jan 9.

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.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Chimerism*
  • Female
  • Genetic Testing / methods*
  • Humans
  • Male
  • Oligonucleotide Array Sequence Analysis / methods
  • Polymorphism, Single Nucleotide*
  • Prader-Willi Syndrome / genetics*
  • Prader-Willi Syndrome / pathology
  • Silver-Russell Syndrome / genetics*
  • Silver-Russell Syndrome / pathology