cri du chat syndrome
DESCRIPTION
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. - PowerPoint PPT PresentationTRANSCRIPT
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Cri Du Chat Syndrome
Lindsey Kim
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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.
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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.
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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).
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"Cri du Chat" is French for "cat's cry"
The most distinctive characteristic about CDC is the distinctive high-pitched, monotone, cat-like cry.
http://www.criduchat.asn.au/criduchat/Images/babycryb.wav
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Symptoms:
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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/>.