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...
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 |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2023-08-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/14/9/1700 |
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