Since Cri-du-chat syndrome usually occurs for the first time in the affected individual, rather than being inherited from a parent, it may not be necessary to test anyone else in the family to determine if they are affected or not unless other individuals have concerning symptoms. However, approximately 15% of individuals with Cri-du-chat syndrome have a parent with a chromosome rearrangement that may increase the likelihood of Cri-du-chat syndrome or another chromosome rearrangement in that person’s children. In order for a family to be given information about the chances of recurrence in another child once one child has been diagnosed with Cri-du-chat syndrome, the parents of a child with Cri-du-chat syndrome should be offered genetic testing, typically through a blood test. This will determine if one of the parents has a rearrangement in their genetic material (translocation) that could make it more likely that a subsequent child might also have Cri-du-chat syndrome.
Other Questions About Cri-du-chat syndrome
- Why do infants with Cri-du-chat syndrome have a cat-like cry?
- Who else in my family should I test for Cri-du-chat syndrome?
- Where do I find other people with Cri-du-chat syndrome?
- What specialist doctors should I see with Cri-du-chat syndrome?
- What other tests or evaluations may be done to monitor the care of a child with Cri-du-chat syndrome?
