First, Cru-du-Chat syndrome is also known as 5p- syndrome, CdCS, or Lejeune syndrome. Cru-du-Chat syndrome is when children have a high pitched cry caused by their larynx not developing properly. Cru-du-Chat is also known as Lejeune syndrome because the geneticist Jerome Lejeune identified cri-du-chat syndrome in 1963. Lejeune was also the founder of the first specialized clinic for Down syndrome patients. Also the major cause of the Cru-du-Chat syndrome is from the short arm of chromosome five. Short arm of chromosome five means that a piece of chromosome five is missing caused by a deletion. 80% of the cases, the chromosome carrying the deletions is from the father’s sperm rather than the mother’s egg like in most cases with other syndromes or diseases. Finally some symptoms of the Cru-du-Chat syndrome are that their larynx doesn’t work properly and they might also have mental retardation. Other symptoms they may have are delayed …show more content…
Tests that help diagnose the disease are microcephaly for poor muscle tone and mental retardation. Mental retardation is a lack of the skills necessary for daily living like walking or talking that usually occurs in people younger than 18. If they have it they usually get it while their infants. Cru-du-chat doesn’t have a real treatment but het can go to treatment for sign language or talking. They can also go to treatment for motor skills treatment that is motions carried out when the brain, nervous system, and muscles work together. A thing that contributes to my disorder is a random event during formation that is a break in DNA molecule while the sperm or egg is developing. If the child has the break in the DNA molecule and the parents don’t have the break, it is unlikely for the parents next child if they have one because it is so rare. In conclusion that is why tests or treatments don’t help the Cru-du-Chat syndrome in any