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If a parent isn a Jagged1 or Notch2 mutation carrier, is he or she still at risk of having another child with Alagille syndrome?

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If a parent isn a Jagged1 or Notch2 mutation carrier, is he or she still at risk of having another child with Alagille syndrome?

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If the parents of a child with Alagille syndrome are found not to carry the gene mutation or deletion found in their child, they have a very small chance of having another child with Alagille syndrome. Although this chance is very low, it’s not zero. If a new mutation occurs in an egg or sperm cell, it’s also possible it’s present in several other egg or sperm cells. If one of these other cells containing the mutation or deletion is used in a fertilization, the fetus would inherit the Jagged1 mutation. When a subset of cells contains the same gene mutation or deletion like this, it’s called to as gonadal mosaicism. Gonadal mosaicism is a rare event, but it does occur. The risk for parents of a child with a new mutation to have another child with the same mutation is estimated at about 1 percent.

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