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

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...

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Autores principales: Lo Bianco, Manuela, Vecchio, Davide, Timpanaro, Tiziana A., Arena, Alessia, Macchiaiolo, Marina, Bartuli, Andrea, Sciuto, Laura, Presti, Santiago, Sciuto, Sarah, Sapuppo, Annamaria, Fiumara, Agata, Marino, Lidia, Messina, Giulia, Pavone, Piero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408450/
https://www.ncbi.nlm.nih.gov/pubmed/32679641
http://dx.doi.org/10.3390/brainsci10070451
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author Lo Bianco, Manuela
Vecchio, Davide
Timpanaro, Tiziana A.
Arena, Alessia
Macchiaiolo, Marina
Bartuli, Andrea
Sciuto, Laura
Presti, Santiago
Sciuto, Sarah
Sapuppo, Annamaria
Fiumara, Agata
Marino, Lidia
Messina, Giulia
Pavone, Piero
author_facet Lo Bianco, Manuela
Vecchio, Davide
Timpanaro, Tiziana A.
Arena, Alessia
Macchiaiolo, Marina
Bartuli, Andrea
Sciuto, Laura
Presti, Santiago
Sciuto, Sarah
Sapuppo, Annamaria
Fiumara, Agata
Marino, Lidia
Messina, Giulia
Pavone, Piero
author_sort Lo Bianco, Manuela
collection PubMed
description 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.
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spelling pubmed-74084502020-08-13 Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion Lo Bianco, Manuela Vecchio, Davide Timpanaro, Tiziana A. Arena, Alessia Macchiaiolo, Marina Bartuli, Andrea Sciuto, Laura Presti, Santiago Sciuto, Sarah Sapuppo, Annamaria Fiumara, Agata Marino, Lidia Messina, Giulia Pavone, Piero Brain Sci Opinion 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. MDPI 2020-07-15 /pmc/articles/PMC7408450/ /pubmed/32679641 http://dx.doi.org/10.3390/brainsci10070451 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Opinion
Lo Bianco, Manuela
Vecchio, Davide
Timpanaro, Tiziana A.
Arena, Alessia
Macchiaiolo, Marina
Bartuli, Andrea
Sciuto, Laura
Presti, Santiago
Sciuto, Sarah
Sapuppo, Annamaria
Fiumara, Agata
Marino, Lidia
Messina, Giulia
Pavone, Piero
Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion
title Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion
title_full Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion
title_fullStr Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion
title_full_unstemmed Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion
title_short Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion
title_sort deciphering the invdupdel(8p) genotype–phenotype correlation: our opinion
topic Opinion
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408450/
https://www.ncbi.nlm.nih.gov/pubmed/32679641
http://dx.doi.org/10.3390/brainsci10070451
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