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Nat Rev Genet ; 19(10): 649-666, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-29995837

RESUMEN

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.


Asunto(s)
Síndrome de Cornelia de Lange , Secuenciación de Nucleótidos de Alto Rendimiento , Mutación , Consenso , Síndrome de Cornelia de Lange/diagnóstico , Síndrome de Cornelia de Lange/genética , Síndrome de Cornelia de Lange/fisiopatología , Síndrome de Cornelia de Lange/terapia , Estudios de Asociación Genética , Humanos
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