Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion
Open Access
- 15 July 2020
- journal article
- editorial
- Published by MDPI AG in Brain Sciences
- Vol. 10 (7), 451
- https://doi.org/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.This publication has 20 references indexed in Scilit:
- Genotype–Phenotype Association Studies of Chromosome 8p Inverted Duplication Deletion SyndromeBehavior Genetics, 2011
- A case with de novo inv dup del(8p) associated with dextrocardia and corpus callosum agenesisPediatrics International, 2010
- Mild phenotype in a patient with mosaic del(8p)/inv dup del(8p)American Journal of Medical Genetics Part A, 2010
- Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangementAmerican Journal of Medical Genetics Part A, 2008
- Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architectureJournal of Medical Genetics, 2005
- Molecular characterization of inv dup del(8p): Analysis of five casesAmerican Journal of Medical Genetics Part A, 2004
- Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion eventJournal of Medical Genetics, 2003
- Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) TranslocationAmerican Journal of Human Genetics, 2002
- Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome RearrangementsAmerican Journal of Human Genetics, 2001
- Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literatureAmerican Journal of Medical Genetics, 1995