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 sequencing (WGS) and optical genome mapping (OGM) to investigate an undiagnosed case of CdLS.

Results

A male patient presented clinical features consistent with CdLS, including a short nose, synophrys, small hands, hearing impairment, refractory complex partial seizures, and developmental delay. Amniocentesis at 28 gestational weeks and karyotyping revealed a presumably balanced translocation between chromosome 5 and chromosome 6. CMA and WES failed to identify copy number variants or

SUBMITTER: Kao HJ 

PROVIDER: S-EPMC12171785 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature