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Doctor insights on: Tests For Cri Du Chat Syndrome

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How long can people live with Cri-Du-Chat syndrome?

Up to a normal life: span depending on the which of the various medical problems that may have. ...Read more

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Is cri du chat syndrome autosomal or sex-linked? Please advise!

Is cri du chat syndrome autosomal or sex-linked? Please advise!

Chromosome 5: The problem is with chromosome 5, so it's not sex linked. ...Read more

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What causes cri du chat syndrome ?

What causes cri du chat syndrome ?

Spontaneous/inherite: The listed frequency of cri du chat syndrome is 1/20, 000-1/50, 000 births. The partial deletion of chromosome 5 is thought to represent 85% by spontaneous new mutations and 15% from an abnormal chromosomal contribution from an unaffected parent that carries a balanced rearrangement of chromosomal material. ...Read more

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How many people have cri du chat syndrome?

1/20k-1/50k births: The listed frequency of cri du chat syndrome is 1/20, 000-1/50, 000 births. The partial deletion of chromosome 5 is thought to represent 85% by spontaneous new mutations and 15% from an abnormal chromosomal contribution from an unaffected parent that carries a balanced rearrangement of chromosomal material. ...Read more

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What are the symptoms of cri du chat syndrome?

What are the symptoms of cri du chat syndrome?

See below: Cri-du-chat syndrome is caused by partial deletion of short arm of chromosome number 5. Cat-like cry in infancy, microcephaly (small head), slow growth, and hypotonia. ...Read more

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What type of inheritance pattern is cri du chat syndrome?

Spontaneous/inherite: The listed frequency of cri du chat syndrome is 1/20, 000-1/50, 000 births. The partial deletion of chromosome 5 is thought to represent 85% by spontaneous new mutations and 15% from an abnormal chromosomal contribution from an unaffected parent that carries a balanced rearrangement of chromosomal material. ...Read more

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How would the cri-du-chat syndrome affect someone if they had it?

How would the cri-du-chat syndrome affect someone if they had it?

Multiple issues: There are multiple issues with this dx.:slow growth, cat like cry, mental deficiency & small head affect all patients. Other significant features may include:low birth weight, low muscle tone, congenital heart disease & other issues to many to list. ...Read more

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Can people with cri du chat syndrome communicate?

Delayed but do talk: Most cri du chat patients are able to communicate in short sentences by the age of ten. Their receptive language is more advanced than their expressive skills, but will remain quite limited. ...Read more

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What's it sound like to have cri du chat syndrome?

What's it sound like to have cri du chat syndrome?

Like a cat's cry: Cri du chat is french for "cry of the cat." cri du chat syndrome is caused by a deletion of part of the short arm (aka the "p" arm) chromosome 5. Newborns with 5p minus have a high pitched cry. It's a serious condition, but many children and adults do very well. Here is a link to the support group for families with cri du chat: http://www.Fivepminus.Org/. ...Read more

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If a person with cri du chat syndrome has a child will their child have it too?

If a person with cri du chat syndrome has a child will their child have it too?

Yes in theory: I could only find a single listed birth to a cri du chat patient in the world literature as of 2010. The outcome was not cited. If born there would be at least a 50% risk of the same abnormal chromosome pattern.Data supports a significant pattern of diminished sexual function along with their intellectual impairments. ...Read more