Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7

Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7

Complex chromosomal rearrangements are rare events compatible with survival, consisting of an imbalance and/or position effect of one or more genes, that contribute to a range of clinical presentations. The investigation and diagnosis of these cases are often difficult. The interpretation of the pat...

Full description

Bibliographic Details
Main Authors: Nicoletta Villa, Serena Redaelli, Stefania Farina, Donatella Conconi, Elena Maria Sala, Francesca Crosti, Silvana Mariani, Carla Maria Colombo, Leda Dalprà, Marialuisa Lavitrano, Angela Bentivegna, Gaia Roversi
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
complex chromosomal rearrangements
array-CGH
genomic complexity
chromosome 7
segmental duplications
Online Access:https://www.mdpi.com/2073-4425/14/9/1700

Internet

https://www.mdpi.com/2073-4425/14/9/1700

Similar Items