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Cri-du-chat Syndrome

Cri-du-chat Syndrome. By: Amit Khosla, Dan Poor, Jason Powell, Lisa Smith, Amber Spiering, Liz Viola. Cri du Chat. 3 year old affected Discovered in 1963 by Dr. Lejeune in France “Cat cry” for newborn crying sound Chromosomal abnormality. Chromosome Mutation:.

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Cri-du-chat Syndrome

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  1. Cri-du-chat Syndrome By: Amit Khosla, Dan Poor, Jason Powell, Lisa Smith, Amber Spiering, Liz Viola

  2. Cri du Chat • 3 year old affected • Discovered in 1963 by Dr. Lejeune in France • “Cat cry” for newborn crying sound • Chromosomal abnormality

  3. 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

  4. 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

  5. Prenatal Testing: • Amniocentesis at 18 weeks • Chorionic Villus Sampling • CDC will not show unless looked for

  6. 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

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

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