A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features

A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features

Large-scale genomic structural variations can have significant clinical implications, depending on the specific altered genomic region. Briefly, 2q37 microdeletion syndrome is a prevalent subtelomeric deletion disorder characterized by variable-sized deletions. Affected patients exhibit a wide range...

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Bibliographic Details
Main Authors: Francesco Nicola Riviello, Alessia Daponte, Emanuela Ponzi, Romina Ficarella, Paola Orsini, Roberta Bucci, Mario Ventura, Francesca Antonacci, Claudia Rita Catacchio, Mattia Gentile
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Genes
Subjects:
microdeletion
microduplication
structural rearrangements
chromosome abnormalities
Online Access:https://www.mdpi.com/2073-4425/14/12/2194

Internet

https://www.mdpi.com/2073-4425/14/12/2194

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