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Lo Bianco M, Vecchio D, Timpanaro TA, et al. Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion. Brain Sci. 2020;10(7)doi: 10.3390/brainsci10070451.
Lo Bianco, M., Vecchio, D., Timpanaro, T. A., Arena, A., Macchiaiolo, M., Bartuli, A., Sciuto, L., Presti, S., Sciuto, S., Sapuppo, A., Fiumara, A., Marino, L., Messina, G., & Pavone, P. (2020). Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion. Brain sciences, 10(7), . https://doi.org/10.3390/brainsci10070451
Lo Bianco, Manuela, et al. "Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion." Brain sciences vol. 10,7 (2020). doi: https://doi.org/10.3390/brainsci10070451
Lo Bianco M, Vecchio D, Timpanaro TA, Arena A, Macchiaiolo M, Bartuli A, Sciuto L, Presti S, Sciuto S, Sapuppo A, Fiumara A, Marino L, Messina G, Pavone P. Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion. Brain Sci. 2020 Jul 15;10(7). doi: 10.3390/brainsci10070451. PMID: 32679641; PMCID: PMC7408450.
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Brain Sci. 2020 Jul 15;10(7). doi: 10.3390/brainsci10070451.

Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.

Brain sciences

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

Affiliations

  1. Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  2. Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  3. Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.

PMID: 32679641 PMCID: PMC7408450 DOI: 10.3390/brainsci10070451

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.

Keywords: 8p23.1 sub-band; CGH-array; FISH; chromosome 8; deletion; duplication; genomic rearrangement; invdupdel(8p); inversion

References

  1. Am J Med Genet A. 2004 Jul 15;128A(2):133-7 - PubMed
  2. Pediatr Int. 2002 Oct;44(5):534-6 - PubMed
  3. Eur J Med Genet. 2009 Jan-Feb;52(1):31-6 - PubMed
  4. Am J Hum Genet. 1999 Apr;64(4):1119-26 - PubMed
  5. Behav Genet. 2011 May;41(3):373-80 - PubMed
  6. J Med Genet. 2003 Aug;40(8):e93 - PubMed
  7. Am J Med Genet A. 2015 May;167A(5):1018-25 - PubMed
  8. Am J Med Genet A. 2010 Nov;152A(11):2827-31 - PubMed
  9. Eur J Paediatr Neurol. 2015 Jul;19(4):477-83 - PubMed
  10. Pediatr Int. 2010 Oct;52(5):845-6 - PubMed
  11. Genet Couns. 2009;20(4):333-40 - PubMed
  12. Am J Hum Genet. 2001 Apr;68(4):874-83 - PubMed
  13. Am J Hum Genet. 2002 Aug;71(2):276-85 - PubMed
  14. J Med Genet. 2006 May;43(5):e19 - PubMed
  15. Am J Med Genet A. 2008 May 1;146A(9):1166-72 - PubMed
  16. J Pediatr Genet. 2018 Sep;7(3):125-129 - PubMed
  17. Am J Med Genet. 1995 Nov 20;59(3):369-74 - PubMed
  18. Eur J Med Genet. 2017 Sep;60(9):445-450 - PubMed
  19. Am J Med Genet. 2001 Aug 15;102(3):266-71 - PubMed
  20. Am J Hum Genet. 1996 Apr;58(4):785-96 - PubMed

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