Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11).

摘要

The aim of this study was to evaluate a patient presenting dysmorphic features and multiorgan malformations suggestive of a severe Cornelia de Lange syndrome (GdLS) phenotype. Initial studies included classical karyotype and nipped-B homolog (NIPBL) mutational screening, which showed a translocation t(3;5)(pl3;qll) and a novel sequence variant in the NIPBL gene. Further evaluation of the findings allowed the determination of their pathogenic significance and hence molecular confirmation of the diagnosis of CdLS.