Cri Du Chat Presentation

1
Cri Du Chat Presentation

• Gabe Duec

2
Cri-Du-Chat Syndrome

• Name is French. Means Cry of The Cat.
• Other names Include
• Chromosome 5p- Syndrome
• 5p Deletion Syndrome
• Monosomy 5p
• 5p- Syndrome

3
Mode of Inheritance

• Cri Du Chat is a chromosomal disorder, but it is
  not inherited. It occurs during the fetal
  development stage
• It is effected by chromosome number 5, when part
  of chromosome number 5 is deleted
• 1 in 50,000 live birth babies will have Cri Du
  Chat
• In 8/10 times, the chromosome carrying the
  deletion will come from the male sperm
• In the United States, approximately 50 to 60
  children are born with Cri Du Chat

4
Symptoms of the Disorder and Detection

• When the infant cries, it resembles a cats cry
• There are problems in the larynx and nervous
  system
• Problems with feeding the child because of
  difficulty swallowing and sucking
• Speech and motor delays
• Low birth weight

5
Diagnostic Testing

• A doctor can issue a chromosome analysis test to
  show that the short arm of the 5th chromosome is
  missing
• Another test called FISH analysis will reveal a
  small part of the chromosome is missing
• It is usually diagnosed at birth in the hospital

6
Prognosis

• Most people with Cri Du Chat have a normal life
  expectancy
• It is not treatable

7
Additional Health Problems

• There are no known treatments for this disorder

8
Current Research

• Currently, biologists are testing parents whose
  children have Cri Du Chat to find out why the
  short arm of the 5th chromosome is being deleted

9
Genetic Counseling

• A genetic counselor would have the parents take a
  karyotype test to determine if one parent has
  a rearrangement of chromosome 5.

10
Pictures
11
Additional Interesting Facts

• There is no known prevention for Cri Du Chat
  syndrome
• Sound Clip-

12
Credits

• http//www.criduchat.asn.au/
• http//learn.genetics.utah.edu/units/disorders/kar
  yotype/criduchat.cfm
• http//rarediseases.about.com/cs/criduchatsynd/a/0
  10704.htm
• http//www.nlm.nih.gov/medlineplus/ency/article/00
  1593.htmSigns20and20tests
• http//www.criduchat.asn.au/criduchat/video.htmfi
  lm
• http//www.drugs.com/enc/cri-du-chat-syndrome.html
  
• http//www.fivepminus.org/about.htm