Informacje

Familial recurrence risk


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. 

 

Zalecenie(a)

Familial recurrence risk

R6
Poradnictwo genetyczne powinno być oferowane wszystkim rodzinom, w których członek rodziny choruje na CdLS. Rodziny powinny być poinformowane, że ryzyko nawrotu CdLS różni się w zależności od zaangażowanego genu. W postaciach niesprzężonych z genem X ryzyko nawrotu wynosi 0,89% z powodu mozaicyzmu germinalnego. W CdLS występuje dziedziczenie autosomalne dominujące, co oznacza, że jeśli obecna jest jedna kopia mutacji, u danej osoby wystąpią objawy kliniczne. U osób z rozpoznanym klinicznie CdLS ryzyko powtórnego wystąpienia choroby w rodzinie wynosi 1,5%.


                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                              

Source:

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                             


  

About the website contents

All of the information on this WebSite is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know at: 

Send a email: info@cdlsWorld.org