nyenial.tripod.com
nBhsgenetics2009.wikispaces.com/Cri+du+Chat+Syndrome
nBestclipartblog.com/23-doctor-clip-art.htm/doctor-clip-art-5
nPd6geneticdisorders.wikispaces.com/Cru+de+chat
nlearn.genetics.utah.edu/content/disorders/whataregc/cdc/
nFivepminus.org/annconf08.htm
nwww.criduchat.org/contacts.html
The 5p- Society is a support group for families and people with Cri du Chat. It aims to spread information to families. It also gives families the opportunity to meet and share experiences. It is a non profit organization. Over 800 families are involved in this support group
Research is aimed at locating and identifying the genes responsible for specific features of the syndrome. The locations for the cat cry and other symptoms have been found on separate bands of the chromosome.
Chromosome deletion is completely random. Most cases have no family history. Only 10% of cases are inherited. The affected person will receive the chromosome from an unaffected parent. The parent has a chromosomal rearrangement called balanced translocation. This usually doesnt cause problems but the chromosome becomes unbalanced when passed to offspring.
Treatment requires ongoing support from parents, therapists, and medical/ educational professionals. If you start early and are consistent with educational intervention and physical/ language therapy children will have full lives.
There are many symptoms of this disease. The most common symptoms are high pitched cat cry, mental handicaps, distinctive facial features, small head size, widely spaced eyes, in infants low birth weight and muscle tone. Half of the people with Cri du Chat are able to sufficiently communicate. Others will just use short sentences or basic words, gestures, or signs. Some people have feeding difficulties, delayed walking, hyperactivity, scoliosis, and severe mental handicaps. A very small number of people have serious organ defects or life threatening conditions. Overall most people have a normal life expectancy.
The syndrome is caused y a deletion on the short arm of chromosome 5. The length of the deletion varies.
This causes people to miss multiple genes and each missing gene can cause a symptom of the syndrome.
Cri du Chat is french for cry of the cat. The syndrome is named this because when a baby is born instead of crying they sound like a cat crying. This is caused by abnormal larynx development. That is one of many symptoms of the syndrome. Cri du Chat is also called 5p deletion syndrome, 5p minus syndrome, 5p- syndrome, cat cry syndrome, and chromosome 5p deletion syndrome. Last years awareness week was 5-13-12 to 5-19-12. This years awareness week will take place sometime in May.
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