WHAT IS CRI DU CHAT?

Cri Du Chat is a rare genetic disorder that effects an estimated 1 in 50,000 live births. The disease is so rare that although it happens once between two parents the chances of it happening again in another child from the same parents is not likely to happen. It's present in all ethnicities and is more common in females by a 4:3 ratio. Approximately 50-60 children are born with cri du chat syndrome in the United States each year.
The syndrome gets it's name from the cry, similar to a meowing kitten, affected infants let out.
The cry is a result of problems with the larynx and nervous system. About 1/3 of affected children lose the cry by the age of 2.
Cri Du Chat is due to the partial deletion of the short arm of chromosome number 5. In 80 percent of the cases, the chromosome carrying the deletion comes from the father's sperm rather than the mother's egg. About 90% of cases result from a sporadic, or randomly-occurring, deletion mutation. The other 10 to15% are caused by an unequal segregation of a chromosomes resulting in an extra or missing gene. Those in the 10 to 15% may have a more sever case of the syndrome.