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Moleculair diagnostic criteria

      
Per i genitori, gli assistenti, i fornitori di assistenza sanitaria e gli insegnanti, sorgono spesso preoccupazioni e domande riguardanti la cura e il benessere degli individui con sindrome di Cornelia de Lange. 

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.


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Moleculair diagnostic criteria

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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.


                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                 

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