CRI DU CHAT

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CRI DU CHAT Syndrome: 

CRI DU CHAT Syndrome Jarod Hartley 6 th period February 13, 2011

What is a CRI Du Chat syndrome?: 

What is a CRI D u Chat syndrome ? Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number. Cri Du Chat is based on the infant’s cry, which is high pitched sound like a cat.

On Which chromosomes does the mutation occur?: 

On Which chromosomes does the mutation occur? Cri du chat syndrome is rare. It happens when genetic information on chromosome 5 is missing . One missing piece, called TERT (telomerase reverse transcriptase)

How does it occur and How often does it occur? : 

Cri-du-chat is caused by a deletion (the length of which may vary ) on the short arm of chromosome 5. short arm of chromosome 5. Cri du chat syndrome occurs every 1 per 200000-500000 newborns. How does it occur and How often does it occur?

How many people die from Cri Du Chat Each year?: 

How many people die from Cri Du Chat Each year? Although there is no cure for Cri Du Chat disease but the disease is not fatal. The majority of cases have good survival expectations (in an Italian study, the oldest patient was aged 61 years)4 although about 10% of cases die in the first year of life.

Symptoms: 

Cry that is high-pitched and sounds like a cat Downward slant to the eyes Low birth weight and slow growth Low-set or abnormally shaped ears Mental retardation Partial webbing or fusing of fingers or toes Single line in the palm of the hand (simian crease) Skin tags just in front of the ear Slow or incomplete development of motor skills Small head (microcephaly) Small jaw (micrognathia) Wide-set eyes . Symptoms

What is the probability of it being passed from one generation to the next?: 

What is the probability of it being passed from one generation to the next? Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. About 10 percent of people with cri-du-chat syndrome inherit the chromosome abnormality from an unaffected parent. Here is a regular parent and here is a victim, child of Cri Du Chat.

Is there a treatment for Cri Du Chat?: 

Is there a treatment for Cri Du Chat? No specific treatment is available for this syndrome. The mental retardation must be addressed, and counseling is recommended for the parents . Parents of a child with this syndrome should have genetic counseling and a karyotype test to determine if one parent has a rearrangement of chromosome 5.

What is the prevention for Cri Du Chat?: 

What is the prevention for Cri Du Chat? There is no known prevention. Couples with a family history of this syndrome who wish to become pregnant may consider genetic counseling .

What Test’s that was conducted to determine this disorder?: 

Inguinal hernia Diastasis recti (separated abdominal muscles) Low muscle tone Epicanthal folds, an extra fold of skin over the inner corner of the eye Incompletely or abnormally folded external ears Genetic tests can show a missing part of chromosome 5. Skull x-ray may reveal an abnormal angle to the base of the skull What Test’s that was conducted to determine this disorder?

Who discovered the Cri Du Chat Syndrome?: 

Cri-du-Chat was discovered by Jerome Lejeune in 1963. Jerome Lejeune, a French geneticist who discovered the chromosome abnormality in humans that causes Down syndrome, a common form of mental retardation . Who discovered the Cri Du Chat Syndrome?

What are some other names for Cri Du Chat Syndrome?: 

What are some other names for Cri Du Chat Syndrome? •Cat cry syndrome •Chromosome 5p- Syndrome •5p deletion syndrome •monosomy 5p •5p- syndrome Cry of the cat

If a child has this unusual cry or other features seen in cri du chat syndrome, chromosome testing should be performed. Chromosome analysis provides the definitive diagnosis of cri du chat syndrome and can be performed from a blood test . Chromosome analysis, also called karyotyping, involves staining the chromosomes and examining them under a microscope. In some cases the deletion of material from chromosome 5 can be easily seen . How do you Strongly Diagnosis Cri Du Chat?

Is Cri Du Chat result of Mutation?: 

Is Cri Du Chat result of Mutation? Cri du Chat is a genetic mutation caused by the spontaneous deletion of material on one of the arms of the 5th chromosome. There are several variants of the disorder that results, and although it is genetic in cause it does not appear to be an inherited disorder but a spontaneous mutation which happens during early embryonic development.

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