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Cri Du Chat Syndrome

Missing part of chromosome 5 view the prezi for more information.

Shelby Nelson

on 18 January 2012

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Transcript of Cri Du Chat Syndrome

Cri du chat is also known as:
Cat Cry Syndrome
Chromosome 5p- Syndrome
5p Deletion Syndrome
Monosomy 5p
5p- Syndrome
Either way you hear it it's the same syndrome. Cri Du Chat Syndrome There are some children with cri du chat are born with a heart defect.
Cry that is high-pitched and sounds like a cat
Downward slant to the eyes
Low birth weight and slow growth
Intellectual disability
Small head and small jaw
Wide-set eyes
Skin tags just in front of the ears
Partial webbing or fusing of fingers or toes
And to think that's only some of the symptons there are a lot more. Symptoms of Cri Du Chat Syndrome Cri du chat is caused when there is a deletion of the end of the short (p) arm of chromosome 5.
During the development of the egg or sperm. There is a small number of cases that occur when one of the parents proccess a different rearranged form of the chromosome onto their child. What Causes The Disorder The chromosome that is affected is part of the 5th one. It can either be given from the mom or the dad, but 80% of the cases, the chromosome carrying the deletion is from the father's sperm. What Gene Or Chromosome Is Affected? There is indeed prenatal tests to see if your baby will have this syndrome. What they'll do is they will insert a needle through the abdominal wall and into the uterous and a small amount of amniotic fluid is going to be removed from the sac that is surrounding the fetus. Are There Any Prenatal Tests? 1 in 50,000 newborns annually in the United States is at risk. Anyone can candidate for this disorder. Females outnumber men 2 to 1. Religion and ethnicity does not matter your baby can still get it. Who Can Be Affected And Who's At Risk? This is syndrome is sex-linked. like I said it happens during the development of the egg, or the sperm. How Is This Inherited? Charlotte at 6 Charlotte at 16 5p bottles are done by a support group and you can do it all by yourself just sign up on their website by collecting money you can help children with Cri du chat syndrome. http://www.criduchat.org.uk http://www.criduchat.u-net.com What's The Deal? The medical assistance the affected child will need all depends on what they get that is treatable. Further assistance could possibly be needed as I said it depends how there state of mind is or if they can even be without someone. But the long-term outlook for the child there life expectancy is normal, and they will ocercome a lot of obstacles in there life. There are different treatments to different things this syndrome causes. But as for cures there is no cure for this syndrome. There are different people you can go and see you help you and heres a list of some consultations.
Clinical Geneticist
Developmental Pediatrician
Physical and Occupational Therapist
Speech Language Pathologist
Are There Any Treatments Or Cures? Girls with cri du chat can have babies and it is possible that the baby will be born with cri du chat syndrome. Can They Have Babies? http://emedicine.medscope.com/article/942897-overview Girl With Cri Du Chat Boy With Cri Du Chat
Full transcript