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

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.

Figure 1

Ventricular asymmetry (left > right) in axial T2 weighted sequence (a), axial T2 FLAIR sequence (b), and coronal multi planar rendering (c).

Figure 2

Poly-lobed cystic pineal gland in sagittal (a) and coronal (b) T2 FLAIR sections.

Figure 3

Retrocerebellar cystic ectasia in axial T2 weighted section.

Figure 4

Cine MRI showing a flow turbulence throughout III and IV ventricles.