What does Cri du Chat sound like?
Description. Cri-du-chat (cat’s cry) syndrome, also known as 5p- (5p minus) 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.
What are some characteristics of Cri du Chat?
Symptoms of cri du chat syndrome
- a high-pitched, cat-like cry or weak cry.
- low birth weight.
- a small head.
- a rounded face.
- a broad, flattened bridge of the nose.
- eyes spaced wide apart.
- folds of skin over the eyelids.
- abnormalities of the palate, such as an unusually narrow and high palate.
Is Cri du Chat syndrome a mutation?
Cri du chat syndrome – also known as 5p- syndrome and cat cry syndrome – is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome 5. The cause of this rare chromosomal deletion is unknown.
What is the prognosis for Cri du Chat?
The survival for children with cri du chat is generally good. Most syndrome related deaths occur within the first year of life. Several children have lived to be over 50 years of age. Genetic counseling is recommended for affected individuals and their families.
Is cri du chat syndrome autosomal dominant?
Cri-du-chat syndrome is an autosomal deletion syndrome caused by a partial deletion of the p arm of chromosome 5 (5p) and is characterized by a distinctive, high-pitched, catlike cry in infancy with growth failure, microcephaly, facial abnormalities, and mental retardation throughout life. See the images below.
What race is Cat Cry Syndrome most common in?
It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.
Is Cri du Chat detected before birth?
Cri du chat syndrome can be detected before birth if the mother undergoes amniocentesis testing or chorionic villus sampling (CVS). This testing would only be recommended if the mother or father is known to have a chromosome rearrangement, or if they already have a child with cri du chat syndrome.