Tuesday, March 8, 2011

Sources!!!!

"Cri Du Chat Syndrome by Zach A | Genetic Disorders." Genetic Disorders |. Web. 09 Mar. 2011. <http://geneticsf.labanca.net/?p=719>.
"Cri Du Chat Syndrome Support Group." The Cri Du Chat Syndrome Support Group. Jeff _at_ Criduchat.co.uk. Web. 09 Mar. 2011. <http://www.cridchat.u-net.com/>.
"Cri-Du-Chat." Gale Virtual Library. Infotrac. Web. 08 Mar. 2011. <http://go.galegroup.com/ps/i.do?action=interpret&id=GALE|CX2468400130&v=2.1&u=tuhs_main&it=r&p=GVRL&sw=w&authCount=1>.
"Cri-du-chat Syndrome - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Service of the U.S. National Library of Medicine, 06 Mar. 2011. Web. 08 Mar. 2011. <http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome>.
"Cri-du-Chat Syndrome." Learn.Genetics™. University of Utah. Web. 08 Mar. 2011. <http://learn.genetics.utah.edu/content/disorders/whataregd/cdc/index.html>.
"Google Image Result for Http://weinerscience.wikispaces.com/file/view/CriDuChat.gif/32551325/CriDuChat.gif." Google. Web. 09 Mar. 2011. <http://www.google.com/imgres?imgurl=http://weinerscience.wikispaces.com/file/view/CriDuChat.gif/32551325/CriDuChat.gif&imgrefurl=http://weinerscience.wikispaces.com/Cri-du-Chat+Karyotype&usg=__-nf5Pu9Wl_aFJwF1NncdN_1UxQk=&h=423&w=440&sz=23&hl=en&start=0&sig2=n-T9i39W0yHL8JPVS8bMfA&zoom=1&tbnid=owN2fn5wC6yhoM:&tbnh=152&tbnw=158&ei=dwd3TarnMczqqAHm7OSeCQ&prev=/images?q=cri+du+chat&um=1&hl=en&client=firefox-a&sa=N&rls=org.mozilla:en-US:official&biw=1280&bih=501&tbs=isch:1&um=1&itbs=1&iact=hc&vpx=629&vpy=126&dur=425&hovh=220&hovw=229&tx=128&ty=115&oei=dwd3TarnMczqqAHm7OSeCQ&page=1&ndsp=13&ved=1t:429,r:4,s:0>.

VIDEOS

SUPPORT GROUPS/INFORMATIONAL WEBSITES.

http://criduchat.de/ - Offers a diary written by the mother of a man named Steven who has been living with Cri-Du-Chat for 25 years and informational book written by his father. Both can be viewed online.


http://www.criduchat.org.uk/ - A website that offers lots of information and offers you the option of donating to the organization associated with it. The organization provides support for patients and family members dealing with the disorder.

http://www.fivepminus.org/ - Family support group for children with Cri-Du-Chat.

TREATMENT?

There is no real treatment for Cri Du Chat syndrome, although children with the disorder can go through therapy to help with their language skills, motor skills, etc. The Therapy helps them develop as normally as possible.

SYMPTOMS & SIGNS

  • * Feeding problems because of difficulty swallowing and sucking.
  • * Low birth weight and poor growth.
  • * Severe cognitive, speech, and motor delays.
  • * Behavioral problems(hyperactivity, aggression, tantrums, and repetitive movements).
  • * Unusual facial features.
  • * Excessive drooling and constipation.
  • *Small Head Size
  • *Mental Disabilites
  • * 30% of infants with Cri Du Chat have heart defects. 
  • *Affected females reach puberty at usual time, as well as males. Both sexes are able to reproduce. 
Chromosome analysis provides the diagnosis of Cri Du Chat syndrome and can be performed from a blood test.
The Syndrome can also be detected before birth if the expecting mother goes through amniocentesis testing or chorionic villus sampling. This is only recommended if the Parents are known to have chromosome rearrangements or they already have a child with Cri Du Chat.
Individuals with cri du chat have a 10% mortality rate due to the problems present when an Infant with the syndrome is born, such as heart defects.

Those affected by Cri Du Chat have very distinctive facial features such as a small head, widely set eyes, small chin, and a small bridge of the nose.

WHAT IS CRI DU CHAT?

Cri Du Chat is a rare genetic disorder that effects an estimated 1 in 50,000 live births. The disease is so rare that although it happens once between two parents the chances of it happening again in another child from the same parents is not likely to happen. It's present in all ethnicities and is more common in females by a 4:3 ratio. Approximately 50-60 children are born with cri du chat syndrome in the United States each year.
The syndrome gets it's name from the cry, similar to a meowing kitten, affected infants let out.
The cry is a result of problems with the larynx and nervous system. About 1/3 of affected children lose the cry by the age of 2.
Cri Du Chat is due to the partial deletion of the short arm of chromosome number 5. In 80 percent of the cases, the chromosome carrying the deletion comes from the father's sperm rather than the mother's egg. About 90% of cases result from a sporadic, or randomly-occurring, deletion mutation. The other 10 to15% are caused by an unequal segregation of a chromosomes resulting in an extra or missing gene. Those in the 10 to 15% may have a more sever case of the syndrome.

CRI DU CHAT

Cri Du Chat syndrome, also known as chromosome 5 deletion syndrome, is a rare genetic disorder.
It's name comes from a french term (cat-cry) which refers to the cat-like cry of affected infants.
The characteristic was first described by Jerome Lejeune, a geneticist known for his discoveries of chromosome abnormalities. He diagnosed the first case of Cri Du Chat in 1963.