|
|
|
|
||||
Opitz G/BBB syndrome
Inhertiance patterns and prenatal diagnosis
Inheritance patterns
This may be very difficult to assess, especially if only one person in
a family is affected. Specialist genetic counselling is advisable.
Without evidence from the family tree, it might be difficult to
estimate the risk of recurrence of the syndrome in a family. Parents
and other close relatives may need to be examined for minor features of
the syndrome. Rarely, the family tree indicates clear-cut autosomal
dominant or X-chromosome linked inheritance that carries high risk of
recurrence.
Prenatal diagnosis
Gene tests are not routinely available but in some families a causative
gene change is identified that does permit prenatal testing after
chorion villus sampling or amniocentesis. In other families, prenatal
diagnosis by ultrasound examination may demonstrate a rare complication
associated with the presence of the syndrome in the fetus.
What are ther causes?
| Is there support? 
Donate Now
makingcontact.org
Pounds for parents
Subscribe to the 