Cri-Du-Chat+Syndrome+-+Richard+P.

Cri-du-Chat Syndrome **Description:** Cri-du-Chat syndrome is one of the most common syndromes. It’s caused by a deletion; the deletion is a break in a DNA molecule that creates chromosome 5. They are numerous genes absent because of this deletion, and each one might be causing the symptoms of Cri-du-Chat syndrome. One of the many deleted genes is TERT (telomerase reverse transcriptase) . TERT is vital during cell division because it keeps the apex of the chromosomes in one piece.

**Inheritance: ** It is rarely inherited, unless one of the parents has Cri-du-Chat Syndrome. The only way to get the disease is when a break in a DNA molecule happens. It only occurs during the meeting of the sperm and the egg. If the parents were to have another child (saying that they had one that has Cri-du-Chat syndrome) it is rarely that it will happen again.

**Symptoms: ** · For babies, might have respiratory problems , causing them to have a high pitch cry. Similar to a cat’s cry. This is caused by an undeveloped larynx. · Unusual small, round face ·  Small Head · Large wide eyes · Tiny bridge nose · Folds of skin above their eyes. · Mental Retardation · Heart Defects · Hearing and seeing problems. · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Weak muscle tone · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">As they grow, it will get hard for them to walk or talk · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Might have personality problems, such as hyperactivity or violent behavior.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Daily Life: **

<span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Daily life for a person with this syndrome is very difficult. At birth babies with this disease are born with a low birth weight. Also they are born with abnormal craniofacial features. Then in later years they will have mental retardations and unusual facial features. Then in order to act like one with out this disease they would have to go to therapy to learn English and motor skills.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: Times,serif; font-size: 12pt;">One way to diagnosis this syndrome is when a baby cries it would sound like a cat crying. Poor muscle tone can show, mental retardation, and microcephaly. As the baby develops, an excerpt can take test of a tiny tissue from the sac or they can find it during x-rays. They would be able to find inguinal hernia, separated abdominal muscles, incompletely folded ears of extra skin, or extra skin fold.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">There is no cure to Cri-du-Chat syndrome, but people with this disease can go through therapy. During therapy, they can improve their language and motor skills. This will help them to become similar to a person with out this disease.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Research: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">Geneticists are trying to look what caused this disease. They have been saying that the gene CTNND2 most likely cause Cri-du-Chat syndrome.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Mutation: **<span style="font-family: Times,serif; font-size: 12pt;"> <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;">Multiple genes are missing in chromosome 5 because of the deletion. <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 115%;">

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Additional Facts: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">The person who had discovered this disease was Jerome Lejeune in 1963. <span style="color: black; font-family: Times,serif; font-size: 12pt;">This disease is very common and affects babies mostly. The deletion of the DNA Molecule mostly comes from the sperm than the egg. This disease affects between 1 in 20,000 and 1 in 50,000 babies.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Resources: **


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