Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome

Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome

Thanks to a long-read sequencing (LRS) approach, in this study, we have reported a molecularly solved case of a proband with a clinical diagnosis of Cornelia de Lange syndrome (CDLS), which is a multisystemic disorder whose causative molecular defects involve cohesin complex genes, with NIPBL locate...

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Bibliographic Details
Main Authors: Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Iascone, Lidia Larizza, Palma Finelli
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Genetics
Subjects:
long-read sequencing
NIPBL
Cornelia de Lange syndrome
translocation
complex chromosomal rearrangement
chromothripsis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1358334/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2024.1358334/full

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