7p22.2 Microduplication: A Pathogenic CNV?

7p22.2 Microduplication: A Pathogenic CNV?

Partial duplication of the short arm of chromosome 7 is a rare chromosome rearrangement. The phenotype spectrum associated with this rearrangement is extremely variable even if in the last decade the use of high-resolution microarray technology for the investigation of patients carrying this rearran...

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Bibliographic Details
Main Authors: Alessia Bauleo, Alberto Montesanto, Vincenza Pace, Francesco Guarasci, Rosalbina Apa, Rossella Brando, Laura De Stefano, Simona Sestito, Daniela Concolino, Elena Falcone
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Genes
Subjects:
7p22.2 microduplication
minimal critical region
neurodevelopmental phenotypes
CNV
array-CGH. 7p22.1
7p22
Online Access:https://www.mdpi.com/2073-4425/14/6/1292

Internet

https://www.mdpi.com/2073-4425/14/6/1292

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