Cri Du Chat Syndrome
By: Frances Dannenbrink, Hanna Kuhn,
and Lindsey Lee
Inheritance
• Not inherited
• A mutation where a piece of
chromosomal material is
missing from a particular region
on chromosome 5
• It’s an autosomal genetic
disorder
Karyotype
Symptoms
•
•
•
•
•
•
Cat-like cry in infants
Mental Retardation
Very small head
Slow growth
Doesn’t gain weight easily
Hypotonia ( poor muscle tone)
Diagnosis
• For infants Cri Du Chat Syndrome is strongly
suspected if the characteristic cat-like cry is heard
and other symptoms are shown
• For older people the cat-like cry is less noticeable,
which makes the diagnosis harder for older people
• Chromosomal analysis and blood tests provide the
definitive diagnosis
• FISH (fluorescence in-situ hybridization) helps detect
small deletions of chromosomes
• Cri Du Chat can be detected during pregnancy if
the mother goes in for amniocentesis testing
Treatment
• No known treatment
• Behavioral modification
therapy is used to control
head-banging,
hyperactivity, and other
childhood problems.
Genetic Counseling
• They would explain the ways in
which this syndrome occurs. They
would advise them of the current
tests available to them to check
whether or not they have an
abnormal chromosome 5, and
what probability they and their
children have of having another
child with the syndrome.
Current Research
• Still no treatment or
cure
• Nothing new about
the symptoms and
diagnosis have been
found
Life Expectancy
•Life expectancy is
unpredictable, but the
oldest person recorded with
Cri Du Chat is 60 years old.
Mindy
We interviewed the mother of this
baby girl, Mindy. Although she looks
normal here, she has had many
severe health problems and has had
to attend many therapist clinics to
try to make her life easier on her and
her family. She has been dependent
on her mother for everything until
she got sick and moved her into an
assisted living facility. She is now 37
and tries to live everyday to the
fullest and has learned to enjoy life
even though she is constantly in
pain.
Works Cited
• Antle, D. Patrick. “Initial Discovery and Clinical Aspects.”
Cri Du Chat Syndrome. 2002. Cri Du Chat Syndrome. 25
Jan. 2009
<http://fs6.depauw.edu/~cfornari/DISGEN/CriDuChat%20
Website/images/criduchat_karyotype.jpg >
• Antle, D. Patrick. “Initial Discovery and Clinical Aspects.”
Cri Du Chat Syndrome. 2002. Cri Du Chat Syndrome. 25
Jan. 2009
(<http://fs6.depauw.edu/~cfornari/DISGEN/CriDuChat%2
0Website/images/cri-du-chat_diagram.gif>
• Christie, Margarette. “Cri Du Chat Support Group of
Australia.” Cri Du Chat Support Group of Australia. 18
Mar. 1999 Cri du Chat Support Group of Australia Inc. 25
Jan. 2009
<http://www.criduchat.asn.au/criduchat/Images/brada.j
pg >
Works Cited Cont.
• Gauci, Patrick. “Joy Crystal Gauci.” Cri Du Chat Support
Group. (Creation date and organization that posted it not
mentioned). 25 Jan. 2009 http://www.cridchat.unet.com/gallery/j/joy_1.jpg
• Ishmael, Holly Ann. “Cri Du Chat Syndrome.” Health A to Z.14
Aug. 2006. Gale Group. 25 Jan.
2009<http://www.healthatoz.com/healthatoz/Atoz/common/
standard/transform.jsp?requestURI=/healthatoz/Atoz/ency/cri
_du_chat_syndrome.jsp>
• Jefferies, Bruce. “Monique Jefferies.” Cri Du Chat Support
Group. (Creation date and organization that posted it not
mentioned). 25 Jan. 2009 <http://www.cridchat.unet.com/gallery/m/monique_1.jpg>
Works Cited Cont.
• Margret . E-mail interview. 25 Jan. 2009
• No specific author. “Cri Du Chat Syndrome.” Genetics
Home Reference. 23 Jan. 2009. U.S. National Library of
Medicines. 25 Jan. 2009
<http://ghr.nlm.nih.gov/condition=criduchatsyndrome>
• No Author listed) “UK Cri Du Chat Syndrome Support
Group. ’ ( Both web page and web site Name ) May
2008 Cri Du Chat Support Groups. 25 Jan. 2009
<http://www.criduchat.co.uk/gifs/debbie.jpg>
• Sun Devil. “Causes and Symptoms.” All One needs to
know about Cri DU Chat. (no last up dated date is
shown). Sundevil10684@yahoo.com. 25 Jan. 2009
http://simons16.tripod.com/