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

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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Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Brain Sciences
Subjects:
invdupdel(8p)
8p23.1 sub-band
chromosome 8
genomic rearrangement
inversion
deletion
Online Access:https://www.mdpi.com/2076-3425/10/7/451

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