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Cri du chat
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Submitted byAswin A S Kurup (LA3-203-1)
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Genetic Information► The chromosome 5 is the chromosome that has been partially deleted that causes this mutation and
this syndrome. The size of deletion could affect from the region 5p15.3 to the total deletion of the second
arm on chromosome 5. 80% of the cases are due to a de novo deletion ( ), 10% are originated from a
parental translocation, and less than 10% are associated with cytogenetic rare aberrations.
► Depending on where the partial chromosome 5 has been deleted, it can affect the 5p15.3 or the 5p15.2
The 5p15.3 results in the crying sound that sounds similar to a catlike cry, while a deletion of the 15p.2
results in the other features that are used to describe the syndrome.
► This trait is autosomal deletion, and is neither dominant or recessive, because they receive that deleted
segment from chromosome 5 from an unaffected parent, and is not inherited. They typically have no history
of the condition in the family, and is polygenetic because multiple genes from chromosome 5 are deleted.
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Race, Sex, and Other factors► There is no race that is more dominant in another for Cri du Chat syndrome, but
females are more dominant over males in newborns, with the ratio being .072:1.