CRI DU CHAT SYNDROME

By: Melanie Findlay

ALTERNATE NAMES cat cry syndrome chromosome 5p- Syndrome 5p deletion syndrome monosomy 5p 5p- syndrome

WHO IS MOST LIKELY TO GET THE DISORDER? This condition is found in people of all ethnic

backgrounds, boys or girls.

Video about the disease:http://www.youtube.com/watch?v=uVobDScjtrw

SYMPTOMS Cat-like infant crying Cat-like cry in infants 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 Respiratory problems Feeding problems Scoliosis Cardiovascular defects

SYMPTOMS CONT. Language delay Self-injury behavior Communication Difficulties Head Banging Self-biting Low I Q Creases on the palm of hand Strabismus Simian crease Slightly short hand bones Malocclusion Harelip Cleft palate Failure to thrive Shuffling gait

COMMON? Cri-du-chat syndrome occurs in an

estimated 1 in 20,000 to 50,000 newborns. Therefore it isn’t very common at all.

DEADLY? SHORTEN LIFESPAN? Although there is no cure, it is not

deadly, and cannot shorten your lifespan.

CAN YOU BE TESTED? WHEN? HOW? Testing can be done from a blood test which

involves Karyotyping, where staining and examining chromosomes under a microscope is done. Cri du chat can also be detected before birth about 16-18 into pregnancy. The mother would have to undergo what is called amniocentesis. Amniocentesis is a procedure in which a needle is inserted into the abdomen and into the uterus to withdraw a sample of the amniotic fluid that surrounds the baby. The fluid or the cells that are in the fluid can be tested to

TREATMENT? CURE OR TREAT SYMPTOMS? Treatment includes supportive care and

development therapy

SUPPORT GROUPS Health Share International is a support

group that is online for people who can’t drive cars or get to a support group somewhere else. You can add friends who are just like you, and discuss your problems together.

INTERESTING FACTS! The geneticist Jerome Lejeune identified cri-du-chat

syndrome in 1963. He also discovered the genetic abnormality that

causes Down syndrome. Cri-du-chat is one of the most common syndromes

caused by a chromosomal deletion. Between 1 in 20,000 and 1 in 50,000 babies. In 80 percent of the cases, the chromosome carrying

the deletion comes from the father's sperm rather than the mother's egg.

When deletions occur during the formation of an egg or sperm, it is caused by unequal recombination during meiosis.

When unequal recombination occurs at this location on chromosome 5, it causes cri-du-chat syndrome.

BIBLIOGRAPHY "Cri Du Chat Essay." Example Essays.com - Over

100,000 Essays, Term Papers and Book Reports! Web. 26 Jan. 2011. <http://www.exampleessays.com/viewpaper/28397.html>.

"Cri-du-chat Syndrome - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 26 Jan. 2011. <http://www.ghr.nlm.nih.gov/condition/cri-du-chat-syndrome>.

"Cri-Du-Chat_Syndrome : Support Group." Yahoo! Groups - Join or Create Groups, Clubs, Forums & Communities. Web. 26 Jan. 2011. <http://groups.yahoo.com/group/Cri-Du-Chat_Syndrome/>.