Discovery and current status for Cri-du-Chat Sydnrome
- In 1963, the geneticist Jerome Lejeune discovered Cri-du-Chat syndrome.
- Geneticists are looking for specific locations on the chromosome that cause particular traits.
- They believe that the gene CTNND2 is what's responsible for the loss of intellectual ability. Research is also being done to determine how behavior is affected by Cri-du-Chat, their goal is to develop more effective therapies for treatment.
How common is Cri-du-Chat Syndrome?
- There is a 1 in 20,000- 50,000 possibility that newborns might have Cri-du-Chat Syndrome.
- The condition is very rare.
Is Cri-du-Chat Syndrome more common in one gender or ethnicity?
- Slightly more common in female newborns than male newborns.
- Found in people of all ethnic backgrounds.
- High-pitched cat-like cry
- Mental retardation
- Delayed development
- Distinctive facial features
- Small head size
- Widely spaced eyes
- Low birth weight
- Weak muscle tone
- Respiratory problems
- Heart defects
- Hearing and sight problems
- There isn't medication or surgery that can decrease condition.
- A retardation test can be taken as the child grows to see how their child compares to normal children.
- Counseling and help from a professional is recommended for the family.
- Regular therapy and counseling when older.
- Physical therapy and learning groups can help the child learn normal verbal skills.
- Most cases have good survival expectations but about 10% of cases die in the first year of life.
- Even though many Cri-du-Chat Syndrome children have developmental delays, they are still able to learn and achieve many social skills during their childhood.
There is no punnet square to show how Cri-du-Chat Syndrome is inherited because their is a deletion in the 5th chromosome and you can't get this disorder from your parents.
Why isn't Cri-du-Chat inherited?
- Most Cri-du-Chat cases are not inherited, it occurs as a random event when during the formation of reproductive cells or in early fetal development. Children who have Cri-du-Chat don't have any history of the disorder in their family.
- Cri-du-Chat affects all races, female and male.
- Not sex-linked because it's caused from a deletion of the 5th Chromosome.
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