Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype Correlation

Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype Correlation

The most frequent microdeletion, 22q11.2 deletion syndrome (22q11.2DS), has a wide and variable phenotype that causes difficulties in diagnosis. 22q11.2DS is a contiguous gene syndrome, but due to the existence of several low-copy-number repeat sequences (LCR) it displays a high variety of deletion...

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Bibliographic Details
Main Authors: Eva-Cristiana Gavril, Roxana Popescu, Irina Nucă, Cristian-Gabriel Ciobanu, Lăcrămioara Ionela Butnariu, Cristina Rusu, Monica-Cristina Pânzaru
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Genes
Subjects:
22q11.2DS
low-copy repeats sequences
phenotype
MLPA
Online Access:https://www.mdpi.com/2073-4425/13/11/2083

Internet

https://www.mdpi.com/2073-4425/13/11/2083

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