Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called "5p monosomy" or "partial monosomy." Approximately 90% of cases result from a sporadic, or randomly occurring, de novo deletion.
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These individuals may have more severe disease than those with isolated monosomy of 5p.
A recent study suggests this may not be the case where a trisomy of chromosome 4q is involved.
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