The "Cat Cry Syndrome", Its Causes and Consequences

The "Cat Cry Syndrome", Its Causes and Consequences
Cat Cry or Cri du Chat Syndrome literally means "cry of the cat" in French.It was named for the cat-like cry made by infants who have the disorder.The consequences for the disorder are many and extremely wide ranged.It mostly occurs in children and is entirely random when choosing its victims.
Cat Cry Syndrome occurs when the short or "p" arm of chromosome 5 is missing.The cry is causes by an abnormal development of the larynx.About 50-60 children in the United Stated are born with the syndrome each year.The chromosome deletion is sporadic, so it's not hereditary and it happens randomly.The deletion size can vary from the terminal band 5p15 to a larger segment.Sometimes it can even go as far as the Centro mere and the 5q11 proximal long arm band.Most cases are paternal in origin and caused by de novo deletions.
In infancy, hearing the cry is a good indicator that a child has the disorder.The cry becomes less noticeable as children get older, making it more difficult to diagnose.If the syndrome is suspected, the patient will under go chromosome analysis called Karyotyping.Karyotyping is a laboratory procedure in which chromosomes are separated from cells, stained and arranged so that their structure can be studied under the microscope.Some times the deletion can not be seen in this way.For those cases a technique that detects very small deletions is used.This method is called FISH, or fluorescence in-situ hybridization.
The consequences of having Cri du Chat Syndrome can be many.Unfortunately a degree of mental retardation occurs in all patients.It is possible that the severity of the retardation may be affected by the amount of therapy the patient receives.Infants may have a low birth weight, grow more slowly, and congenital heart defects.The disorder also causes unusual facial feat

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