What is 5p deletion syndrome?
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 the symptoms of 5p minus syndrome?
Each year in the United States, approximately 50 to 60 children are born with 5p- Syndrome (five p minus), also known as Cat Cry Syndrome or Cri du Chat Syndrome. 5p- Syndrome is characterized at birth by a high pitched cry, low birth weight, poor muscle tone, microcephaly, and potential medical complications.
What causes 5p minus syndrome?
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 main cause of cri du chat syndrome?
Cri du chat syndrome is a rare genetic disorder caused by a missing section on a particular chromosome known as Chromosome 5. Sometimes, material from another chromosome is missing as well. Around one in every 50,000 or so babies is diagnosed with this disorder.
Who does cri du chat syndrome affect?
About 1 in 10 babies born with cri du chat syndrome are severely affected and die within the first year of life. Intellectual disability is common. Because of the head and face abnormalities, serious lung infection (pneumonia) is more common.
How is cri du chat syndrome diagnosed?
The condition is usually diagnosed at birth, based on physical abnormalities and other signs like the typical cry. Your doctor may perform an X-ray on your child’s head to detect abnormalities in the base of the skull. A chromosome test that uses a special technique called a FISH analysis helps detect small deletions.
Can Cri du Chat be cured?
Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of abnormalities, especially affecting the head and face. Other features may include learning difficulties and slow growth and development. There is no specific treatment.
Are there any treatments or cures for Cri du Chat?
There is no specific treatment for cri-du-chat syndrome. You can help manage symptoms with physical therapy, language and motor skill therapy, and educational intervention.
What are the symptoms of 5p syndrome?
Most individuals who have 5p- Syndrome have difficulty with language. Some become able to use short sentences, while others express themselves with a few basic words, gestures, or sign language. Nearly all children with 5p- Syndrome have poor muscle tone when they are young.
What is 5p-syndrome (five P minus)?
Each year in the United States, approximately 50 to 60 children are born with 5p-Syndrome (five p minus), also known as Cat Cry Syndrome or Cri du Chat Syndrome. 5p-Syndrome is characterized at birth by a high pitched cry, low birth weight, poor muscle tone, microcephaly, and potential medical complications.
What does 5p15 mean on a chromosome?
For example, the short arm of chromosome 5 includes bands 5p10 (at the centromere or constriction of the chromosome) to 5p15, which is the end of the short arm or “terminal” band of 5p (also known as “5pter”).
What is a 5p translocation?
Depending on which chromosomes are inherited, a duplication of 5p may be present with missing chromosomal material from the other chromosome involved in the translocation. A translocation may be suspected in individuals who have had multiple miscarriages.