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julian pyrzynski

on 3 May 2010

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Transcript of cri-du-chat

Cri-du-chat this word is french for cry of the cat, the name is given for the distinctive cry in the child. Cri-du-chat is caused by a deletion on chromosome five. one of the deleted genes to be involved is TERT (telomerase reverse transcription), This gene is important in cell division because it helps keep the tips of the chromosomes in tact. the breaking of the chromasome is very rare. mostly this disorder happens in females more than males on a 4:3 bases if the child does inherit the disease they may get symptoms of the lot of them but not all symptoms include these below... Symptoms cat-like cry in infant. abnormal laryngeal development in infants. low birth weight severe mental retardation severe growth retardation small head reduced muscle tone round face low set deformed ears wide set eyes epicanthic folds respitory problems feeding problems scoliosis cardiovascular defects language delay self injury behavior communication difficulties head banging self biting low IQ creases on the palm of hand strabismus simian crease slightly short hand bone malocclusion harelip cleft palate failure to thrive shuffling gait. as said before not all symptom are in herited in the child personal testimony MY DAUGHTER MADISON HAS CRI DI CHAT SYNDROME I FOUND OUT SOMETHING WAS WRONG, THE NIGHT SHE WAS BORN 9-29-99. WHEN SHE CRIED SHE SOUNDED LIKE A KITTY. MY FATHER IS A RADIOLOGIST/MD, AND I SAID TO HIM THAT SHE SOUNDED LIKE A KITTY,AND HE THOUGHT OH NO!! FROM HIS STUDIES HE REMEMBERED READING ABOUT CAT CRY SYNDROME. AND WE HAD HER BLOOD DRAWN AND A WEEK LATER, THE DOCTOR TOLD ME THE NEWS ABOUT HER. I WENT THROUGH ALL THE EMMOTIONS WHILE BEING IN THE DOCTORS OFFICE. BUT I HAD A POSSITIVE ATTITUDE AND KNOWING THAT SHE WOULD BE ALRIGHT. SHES TWO YEARS OLD NOW AND SHES CRAWLING AND TRYING TO TALK. SHE SAYS MA MA, WHICH IS SO GREAT!!!! SHE IS EATING SOLID FOODS NOW, AND I GIVE HER PEDISURE WITH FIBER, FOR ADDED VITIAMS AND FAT. SHES PROGRESSING SO MUCH EVERY MONTH LATELY. IM SO PROUD OF HER Treatment, research, and development currently the is no treatment for cri-du-chat syndrome parents can get genetic counseling to help the find out if their child will have it. parents can also get counsaling to help the child grow to be normal then it would be without the counseling. research has grown to tell us that this disease is not always in the parent so even if you dont have cri-du-chat your child can still get it. since there is no real way to tell if your child will have it or not becuase of the last little detail, there can be no punnet square. counseling a councelor would tell you to give the child a more enhanced learning experience then you would give a normal child so that it may develope better in the later years. they could tell you that your child may live a good life if special schooling is involved. Facts one in 50,000 live births have the disease about 50-60 children have the disease in the united states each year the syndrome can be found in all races and both male and female. this syndrome happens in mostly females crid du chat is a deletion in chromosome 5 this disease has no cure but can be treated a little to help the child function properly in the later years. even if the parents do not have the disease their child can have it. project made by:
julian pyrzynski
grade. 8
rm. 308
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