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Familial recurrence risk


        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. 

Genetic counselling should be offered to all families with a family member with CdLS. Genetic counselling is when prospective parents are given advice about the risks of having a child with a genetic disorder. 

In general the recurrence risk is small as in most cases the mutation occurs spontaneously after fertilisation. But this should be examined, as the mutation can be present in the father or the mother. 


Raccomandazioneinformation

Familial recurrence risk

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Genetic counselling should be offered to all families with a family member with CdLS. Families should be counselled that the recurrence risk of CdLS differs depending on the gene involved. In the non-X-linked forms, the recurrence risk is 0.89% due to germline mosaicism. Autosomal dominant inheritance of CdLS does occur, meaning if one copy of the mutation is present, the individual will show clinical effects. In clinically diagnosed individuals with CdLS, the recurrence risk is 1.5%.


                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                        

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