Deciphering the invdupdel(8p) genotype–phenotype correlation: Our opinion

Manuela Lo Bianco, Davide Vecchio, Tiziana A. Timpanaro, Alessia Arena, Marina Macchiaiolo, Andrea Bartuli, Laura Sciuto, Santiago Presti, Sarah Sciuto, Annamaria Sapuppo, Agata Fiumara, Lidia Marino, Giulia Messina, Piero Pavone

Research output: Contribution to journalArticlepeer-review

Abstract

The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it is thought that the composite clinical picture may fall into the chromosomal rearrangement architecture. With the major aim of better framing its related clinical and diagnostic paths, we describe a patient carrying a de novo invdupde[8p] whose clinical features have not been described so far. Hence, through an extensive genotype–phenotype correlation analysis and by reviewing the dedicated scientific literature, we compared our patient’s features with those reported in other patients, which allows us to place our proband’s expressiveness in an intermediate area, widening the scope of the already known invdupde[8p] genotype–phenotype relationship.

Original languageEnglish
Article number451
Pages (from-to)1-11
Number of pages11
JournalBrain Sciences
Volume10
Issue number7
DOIs
Publication statusPublished - Jul 2020

Keywords

  • 8p23.1 sub-band
  • CGH-array
  • Chromosome 8
  • Deletion
  • Duplication
  • FISH
  • Genomic rearrangement
  • Invdupdel(8p)
  • Inversion

ASJC Scopus subject areas

  • Neuroscience(all)

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