•Cri Du Chat Syndrome results from the loss or deletion of a significant portion of the genetic material from the short arm of one of the pair of number five chromosomes.
•is also known as 5P Minus syndrome and Cat's-cry syndrome.
•Where does the abnormal chromosome 5 come from?
•Multiple genes are missing as a result of this deletion, and each may contribute to the symptoms of the disorder. One of the deleted genes known to be involved is TERT (telomerase reverse transcriptase).
• This gene is important during cell division because it helps to keep the tips of chromosomes (telomeres) in tact
• It is thought that more girls than boys are born with the syndrome. The ratio is currently estimated to be 3 girls to 2 boys.
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What is Cri Du Chat Syndrome?
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