Pergunte ao perito

Moleculair diagnostic criteria


The genetic causes of CdLS are complex and research to fully understand all the genetic causes is still ongoing. The genetic make-up of a child cannot be changed after conception.

The CdLS spectrum has been associated with a change (mutation) in genetic material. Usually, CdLS is caused by a change in one of seven genes. Genes are individual genetic instructions in DNA that make us who we are. The seven genes associated with CdLS are: NIPBL, SMC1A, SMC3, RAD21, BRD4, HDAC8 and ANKRD11. A change in one of these genes affects what is known as the cohesin protein complex.

Recomendação(ões)

Moleculair diagnostic criteria

R4
Classic CdLS is usually caused by variants in NIPBL; however, variants in one of six other genes – SMC1A, SMC3, RAD21, BRD4, HDAC8 or ANKRD11/ – should also be considered, as they may lead to a similar phenotype.


                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                   

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                


  

Aprofunda os teus conhecimentos sobre síndrome de Cornelia de Lange (CdLS)

Organizamos os nossos information sobre síndrome de Cornelia de Lange (CdLS) em tópicos. Pode navegar pelos nossos tópicos abaixo. Abaixo de cada tópico pode encontrar tópicos mais detalhados com information que podem ser do seu interesse.

Sobre o conteúdo do sítio web

Toda a informação contida neste WebSite é apenas para fins educativos. O local para obter aconselhamento médico específico, diagnósticos e tratamento é o seu médico. A utilização deste site é estritamente por sua conta e risco. Se encontrar algo que considere necessário corrigir ou esclarecer, por favor informe-nos em: 

Envie um e-mail: info@cdlsWorld.org