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7p22.2 Microduplication: A Pathogenic CNV?

Alessia BauleoAlberto MontesantoVincenza PaceFrancesco GuarasciRosalbina ApaRossella BrandoLaura De StefanoSimona SestitoDaniela ConcolinoElena Falcone
Published in: Genes (2023)
Partial duplication of the short arm of chromosome 7 is a rare chromosome rearrangement. The phenotype spectrum associated with this rearrangement is extremely variable even if in the last decade the use of high-resolution microarray technology for the investigation of patients carrying this rearrangement allowed for the identification of the 7p22.1 sub-band causative of this phenotype and to recognize the corresponding 7p22.1 microduplication syndrome. We report two unrelated patients that carry a microduplication involving the 7.22.2 sub-band. Unlike 7p22.1 microduplication carriers, both patients only show a neurodevelopmental disorder without malformations. We better characterized the clinical pictures of these two patients providing insight into the clinical phenotype associated with the microduplication of the 7p22.2 sub-band and support for a possible role of this sub-band in the 7p22 microduplication syndrome.
Keyphrases
  • end stage renal disease
  • newly diagnosed
  • high resolution
  • chronic kidney disease
  • prognostic factors
  • peritoneal dialysis
  • gene expression
  • mass spectrometry
  • case report
  • patient reported