cri du chat syndrome n.
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Cri Du Chat Syndrome. Lindsey Kim. Cri Du Chat is the loss or deletion of a significant portion of the genetic material from the short arm of one of the pair of number five chromosomes.

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Presentation Transcript
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Cri Du Chat is the loss or deletion of a significant portion of the genetic material from the short arm of one of the pair of number five chromosomes.

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CDC is a relatively rare genetic condition where it is estimated that 1:25,000 to 1:50,000 births are being diagnosed with CDC.
history
History
  • In 1963, Le Jeune et al described a syndrome consisting of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants with a deletion of a B group chromosome (Bp-), later identified as 5p-.1 (basically CDC.)
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Most cases of cri du chat syndrome are not inherited or passed down among families. Just a random deletion occurs.
how it is diagnosed

How it is diagnosed…

Doctors most often identify cri-du-chat by the infant's cat-like cry. Other signs are microcephaly, poor muscle tone, and mental retardation.

It is also possible to test for cri-du-chat (and other chromosomal abnormalitites) while the baby is still in its mother's womb. They can either test a tiny sample of tissue from outside the sac where the baby develops (chorionic villus sampling (CVS)), or they can test a sample of the amniotic fluid (amniocentesis).

cri du chat is french for cat s cry
"Cri du Chat" is French for "cat's cry"

http://www.criduchat.asn.au/criduchat/Images/babycryb.wav

The most distinctive characteristic about CDC is the distinctive high-pitched, monotone, cat-like cry.

symptoms

ROUNDED FACE

Downward slant to the eyes

Small head (microcephaly)

Widely spaced eyes (hypertelorism)

Partial webbing or fusing of fingers or toes

Low birth weight and slow growth

Low set ears

Small receding chin (micrognathia)

High palate

Distinctive palmar creases (creases on the palms of the hands)

Folds of skin over the upper eyelid (epicanthic folds)

Low broad nasal bridge

Symptoms:

Slow or incomplete development of motor skills

Mental Retardation

treatments
Treatments
  • Although there is no real treatment for cri-du-chat syndrome, children with the disorder can go through therapy to improve their language skills, motor skills, and to help them develop as normally as possible.
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Works Cited “Cri Du Chat.” emedicine. N.p., n.d. Web. 12 Nov. 2009. <http://emedicine.medscape.com/‌article/‌942897-overview>.“Cri Du Chat.” GHR. N.p., n.d. Web. 12 Nov. 2009. <http://ghr.nlm.nih.gov/‌condition=criduchatsyndrome>.“Cri Du Chat.” Natural Standard. N.p., n.d. Web. 12 Nov. 2009. <http://www.naturalstandard.com/‌index-abstract.asp?create-abstract=/‌monographs/‌conditions/‌condition-criduchat.asp>.“Cri Du Chat.” Nlm. N.p., n.d. Web. 12 Nov. 2009. <http://www.nlm.nih.gov/‌medlineplus/‌ency/‌article/‌001593.htm>.“Cri Du Chat.” Rare Diseases. N.p., n.d. Web. 12 Nov. 2009. <http://rarediseases.about.com/‌cs/‌criduchatsynd/‌a/‌010704.htm>.Learn Genetics. Cri du Chat, n.d. Web. 12 Nov. 2009. <http://learn.genetics.utah.edu/‌content/‌disorders/‌whataregd/‌cdc/>.