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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.
Afiliación
  • Lo Bianco M; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  • Vecchio D; Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  • Timpanaro TA; Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  • Arena A; Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  • Macchiaiolo M; Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  • Bartuli A; Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, 00146 Rome, Italy.
  • Sciuto L; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  • Presti S; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  • Sciuto S; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  • Sapuppo A; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  • Fiumara A; Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  • Marino L; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  • Messina G; Postgraduate Training Program in Pediatrics, Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
  • Pavone P; Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.
Brain Sci ; 10(7)2020 Jul 15.
Article en En | MEDLINE | ID: mdl-32679641
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Brain Sci Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Brain Sci Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza