Cri du Chat Syndrome (Cry of the Cat)

Cri du Chat Syndrome, also known as 5p- Syndrome is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, distinctive facial features, small head size, low birth weight, and low muscle tone in infancy. Some children with Cri du Chat Syndrome are also born with heart defect.

Monday, February 16, 2009

Interesting Facts

The geneticist Jerome Lejeune identified cri du chat syndrome in 1963. He also discovered the genetic abnormality that causes Down syndrome.

Cri du chat is one of the most common syndrome caused by a chromosomal deletion. It affects between 1 in 20,000 and 1 in 50,000 babies.

In 80 percent of the cases, the chromosome carrying the deletion comes from the father's sperm rather than the mother's egg.

Each year in the United States, approximately 50 to 60 children are born with cri du chat syndrome.