Cri-du-chat Syndrome

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Cri-du-chat Syndrome

• By Amit Khosla, Dan Poor, Jason Powell, Lisa
  Smith, Amber Spiering, Liz Viola

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Cri du Chat

• 3 year old affected
• Discovered in 1963 by Dr. Lejeune in France
• Cat cry for newborn crying sound
• Chromosomal abnormality

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Chromosome Mutation

• Deletion on short arm of chromosome 5
• Found using FISH technique
• Deletions vary in size
• Very small 5p15.2
• Very large entire short arm

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Incidence of Defect

• Occurs in 1/20000 to 1/50000 births
• Sporadic abnormality
• Majority of cases not linked to parents
• 12 of cases result from unbalanced segregation
  of translocations involving an inversion in one
  of the parents

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Prenatal Testing

• Amniocentesis at 18 weeks
• Chorionic Villus Sampling
• CDC will not show unless looked for

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Symptoms

• Babies
• High pitch cry, low birth weight, poor muscle
  tone, developmental delay, small head, round moon
  face
• Children
• Small build, delay in speech, protruding teeth
• CDC children survive to adulthood but display low
  IQ (below 20) and thin, narrow face with
  prominent nasal bridge

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Treatments

• Chromosomal abnormality cannot be prevented or
  cured at this time
• Therapy
• Speech, physical, occupational
• Drugs to control behavioral and sleeping problems
• Special schooling