Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis

Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis

ABSTRACT Background Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by congenital multiple anomalies, developmental delay, and distinctive facial features. Methods We performed chromosomal microarray analysis (CMA), whole exome sequencing (WES), linked‐read whole‐genome se...

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Bibliographic Details
Main Authors: Hsiao‐Jung Kao, Elin H. F. Wang, Erh‐Chan Yeh, Hsiao‐Huei Chen, Feng‐Jen Hsieh, Tsang‐Ming Ko, Wuh‐Liang Hwu, Pui‐Yan Kwok, Ni‐Chung Lee
Format: Article
Language:English
Published: Wiley 2025-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Cornelia de Lange syndrome (CdLS)
cytogenomics
linked‐read whole‐genome sequencing (WGS)
optical genome mapping (OGM)
translocation
Online Access:https://doi.org/10.1002/mgg3.70115
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https://doi.org/10.1002/mgg3.70115

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